List of variants in gene ERCC6 reported as uncertain significance for DE SANCTIS-CACCHIONE SYNDROME

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_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	rs139007661	0.00179
NM_000124.4(ERCC6):c.4063-5T>C	rs186482480	0.00015
NM_000124.4(ERCC6):c.527G>A (p.Arg176Gln)	rs1442811418

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