ClinVar for MedGen (Select 906504) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377449	NM_004990.4(MARS1):c.916C>T (p.Leu306Phe)	MARS1 (L306F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U	GUncertain significance
Select item 3244339	NC_000012.11:g.(?_57881874)_(57884447_?)dup	MARS1	Duplication	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 3244338	NC_000012.11:g.(?_57891920)_(57898102_?)del	MARS1	Deletion	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 3244337	NC_000012.11:g.(?_57897988)_(57898102_?)del	MARS1	Deletion	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2954438	NM_004990.4(MARS1):c.414+11T>C	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2954207	NM_004990.4(MARS1):c.1091+19G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2954049	NM_004990.4(MARS1):c.2556+4T>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2953530	NM_004990.4(MARS1):c.520C>T (p.Gln174Ter)	MARS1 (Q174*)	Single nucleotide variant (nonsense)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2953276	NM_004990.4(MARS1):c.2556+3A>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2952687	NM_004990.4(MARS1):c.1853G>T (p.Arg618Leu)	MARS1 (R618L)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2951701	NM_004990.4(MARS1):c.1027_1028del (p.Ile343fs)	MARS1 (I343fs)	Deletion (frameshift variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2951213	NM_004990.4(MARS1):c.2686G>C (p.Gly896Arg)	MARS1 (G896R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2951202	NM_004990.4(MARS1):c.663+9T>C	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2950824	NM_004990.4(MARS1):c.1914G>A (p.Leu638=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2950392	NM_004990.4(MARS1):c.2673_2674insTTC (p.Pro891_Glu892insPhe)	MARS1	Insertion (inframe_insertion)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2949900	NM_004990.4(MARS1):c.1754-6G>A	MARS1, MIR6758	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2949855	NM_004990.4(MARS1):c.2082G>A (p.Gln694=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2949452	NM_004990.4(MARS1):c.1709_1710delinsTT (p.Gly570Val)	MARS1 (G570V)	Indel (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2949320	NM_004990.4(MARS1):c.712dup (p.Thr238fs)	MARS1 (T238fs)	Duplication (frameshift variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2949232	NM_004990.4(MARS1):c.1043A>T (p.Asn348Ile)	MARS1 (N348I)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2949006	NM_004990.4(MARS1):c.770+19T>C	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2948511	NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys)	MARS1 (Q794K)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2948252	NM_004990.4(MARS1):c.2356C>T (p.Leu786=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2947531	NM_004990.4(MARS1):c.2464-18A>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2947331	NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del)	MARS1 (E232del)	Microsatellite (inframe_deletion)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2947171	NM_004990.4(MARS1):c.2196G>A (p.Glu732=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2946981	NM_004990.4(MARS1):c.2685dup (p.Gly896fs)	MARS1 (G896fs)	Duplication (frameshift variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2946900	NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly)	MARS1 (A704G)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2946392	NM_004990.4(MARS1):c.279+5G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2946133	NM_004990.4(MARS1):c.2323C>G (p.Pro775Ala)	MARS1 (P775A)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2946107	NM_004990.4(MARS1):c.201-14C>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2945493	NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)	MARS1 (P46R)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2944711	NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)	MARS1 (E76A)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2944623	NM_004990.4(MARS1):c.1539+14T>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2943023	NM_004990.4(MARS1):c.618C>T (p.Pro206=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2942885	NM_004990.4(MARS1):c.115G>C (p.Val39Leu)	MARS1 (V39L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2940964	NM_004990.4(MARS1):c.663+14C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2940582	NM_004990.4(MARS1):c.279+17G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2940288	NM_004990.4(MARS1):c.2392-12C>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2939856	NM_004990.4(MARS1):c.2100-1G>A	MARS1	Single nucleotide variant (splice acceptor variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2939029	NM_004990.4(MARS1):c.2246C>T (p.Ala749Val)	MARS1 (A749V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2939017	NM_004990.4(MARS1):c.2088T>C (p.Leu696=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2938951	NM_004990.4(MARS1):c.1273A>G (p.Ile425Val)	MARS1 (I425V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2938842	NM_004990.4(MARS1):c.2625A>G (p.Lys875=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2938783	NM_004990.4(MARS1):c.1998G>A (p.Gly666=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2938459	NM_004990.4(MARS1):c.965C>T (p.Ala322Val)	MARS1 (A322V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2938450	NM_004990.4(MARS1):c.1534del (p.Asp512fs)	MARS1 (D512fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2938225	NM_004990.4(MARS1):c.960C>A (p.Thr320=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2937995	NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys)	MARS1 (E429K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GUncertain significance
Select item 2937790	NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln)	MARS1 (R487Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2937436	NM_004990.4(MARS1):c.2481G>A (p.Lys827=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 2937434	NM_004990.4(MARS1):c.2150A>G (p.Gln717Arg)	MARS1 (Q717R)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2937365	NM_004990.4(MARS1):c.1940T>C (p.Leu647Pro)	MARS1 (L647P)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2936578	NM_004990.4(MARS1):c.2462A>G (p.Gln821Arg)	MARS1 (Q821R)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2936432	NM_004990.4(MARS1):c.2677G>A (p.Ala893Thr)	MARS1 (A893T)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2936131	NM_004990.4(MARS1):c.664-5T>C	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2936073	NM_004990.4(MARS1):c.1906A>G (p.Thr636Ala)	MARS1 (T636A)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2935287	NM_004990.4(MARS1):c.2391+1G>C	MARS1	Single nucleotide variant (splice donor variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2935141	NM_004990.4(MARS1):c.2302C>G (p.Gln768Glu)	MARS1 (Q768E)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2934869	NM_004990.4(MARS1):c.2370A>C (p.Pro790=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2934836	NM_004990.4(MARS1):c.1870A>G (p.Ile624Val)	MARS1 (I624V)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2934604	NM_004990.4(MARS1):c.534C>T (p.Thr178=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2934310	NM_004990.4(MARS1):c.2556+5G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2934236	NM_004990.4(MARS1):c.1233G>A (p.Glu411=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2934159	NM_004990.4(MARS1):c.896G>A (p.Arg299His)	MARS1 (R299H)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2934116	NM_004990.4(MARS1):c.311T>A (p.Val104Glu)	MARS1 (V104E)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2933507	NM_004990.4(MARS1):c.1967+12T>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2933336	NM_004990.4(MARS1):c.2149C>A (p.Gln717Lys)	MARS1 (Q717K)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2933322	NM_004990.4(MARS1):c.2549C>T (p.Thr850Ile)	MARS1 (T850I)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2933170	NM_004990.4(MARS1):c.874G>C (p.Asp292His)	MARS1 (D292H)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2933055	NM_004990.4(MARS1):c.2204+19T>C	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2932829	NM_004990.4(MARS1):c.1092-3C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2932710	NM_004990.4(MARS1):c.2504C>A (p.Thr835Lys)	MARS1 (T835K)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2932527	NM_004990.4(MARS1):c.2079C>T (p.His693=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2932394	NM_004990.4(MARS1):c.2131A>G (p.Ile711Val)	MARS1 (I711V)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2932326	NM_004990.4(MARS1):c.491-15C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2932274	NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)	MARS1 (R67Q)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2932108	NM_004990.4(MARS1):c.2099+12A>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2932022	NM_004990.4(MARS1):c.415-14T>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2931651	NM_004990.4(MARS1):c.363G>C (p.Leu121=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2931561	NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)	MARS1 (P94S)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2931235	NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg)	MARS1 (Q445R)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2931050	NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)	MARS1 (S55R)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2931048	NM_004990.4(MARS1):c.1721A>C (p.Asn574Thr)	MARS1 (N574T)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2930595	NM_004990.4(MARS1):c.1284C>G (p.Val428=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2930033	NM_004990.4(MARS1):c.2504del (p.Thr835fs)	MARS1 (T835fs)	Deletion (frameshift variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2930021	NM_004990.4(MARS1):c.1874G>A (p.Arg625Gln)	MARS1 (R625Q)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2929834	NM_004990.4(MARS1):c.1531_1539+14del	MARS1	Deletion (splice donor variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2929527	NM_004990.4(MARS1):c.1369-10G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2929404	NM_004990.4(MARS1):c.1091+15A>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2929384	NM_004990.4(MARS1):c.414+1G>T	MARS1	Single nucleotide variant (splice donor variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2929150	NM_004990.4(MARS1):c.709G>A (p.Val237Ile)	MARS1 (V237I)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2929096	NM_004990.4(MARS1):c.1171C>G (p.His391Asp)	MARS1 (H391D)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2928943	NM_004990.4(MARS1):c.1754-15T>C	MARS1, MIR6758	Single nucleotide variant (non-coding transcript variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2928695	NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys)	MARS1 (Y532C)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2928692	NM_004990.4(MARS1):c.1560T>C (p.Asp520=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2927706	NM_004990.4(MARS1):c.888-7C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2927366	NM_004990.4(MARS1):c.2205-10T>C	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2926976	NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala)	MARS1 (E585A)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance

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