List of variants in gene combination ERCC6, ERCC6-PGBD3 reported as uncertain significance for DNA repair disease

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.-107A>G	rs886047042	0.00004
NM_000124.4(ERCC6):c.-14-2A>G	rs760663515	0.00001
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)	rs886047039	0.00001
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)	rs1218964618	0.00001
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup)	rs1554793268
NM_000124.4(ERCC6):c.289G>A (p.Val97Met)	rs1837497957
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del)	rs765040780

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