List of variants in gene combination ERCC6, LOC126860933 reported as pathogenic for DNA repair disease

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)	rs772801089	0.00002
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001

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