ClinVar for MedGen (Select 1684798) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628033	NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)	KRT3, LOC126861527 (E509D)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GLikely pathogenic
Select item 1213856	NM_057088.3(KRT3):c.1492G>A (p.Glu498Lys)	KRT3, LOC126861527 (E498K)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GLikely pathogenic
Select item 66749	NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)	KRT3, LOC126861527 (R503P)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GPathogenic
Select item 66748	NM_057088.3(KRT3):c.1493A>T (p.Glu498Val)	KRT3, LOC126861527 (E498V)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GPathogenic
Select item 14632	NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys)	KRT3, LOC126861527 (E509K)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GPathogenic

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