List of variants in gene ERCC8 reported as pathogenic for Cockayne syndrome type 1; UV-sensitive syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)	rs143367518	0.00004
NM_000082.4(ERCC8):c.1042-2A>G	rs372237310	0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)	rs370657735	0.00001

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