ClinVar for OMIM (Select 189972) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 55827	NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)	ERCC4 (C236R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 16778	NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)	ERCC1 (F231L)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 4	GPathogenic
Select item 16582	NM_000122.2(ERCC3):c.2218-6C>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GPathogenic

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