ClinVar Miner

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

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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