ClinVar Miner

List of variants in gene ERCC3 reported as benign for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.*259G>A rs1803541 0.03432
NM_000122.1(ERCC3):c.-69C>T rs9282675 0.02606
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) rs2228544 0.01580
NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) rs4150456 0.01434
NM_000122.2(ERCC3):c.1027+3A>G rs4150417 0.01342
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_000122.2(ERCC3):c.*29C>T rs4150523 0.00736
NM_000122.2(ERCC3):c.1335C>T (p.Thr445=) rs4150422 0.00440
NM_000122.2(ERCC3):c.615G>A (p.Glu205=) rs13427563 0.00362
NM_000122.2(ERCC3):c.*177A>G rs4150525 0.00151
NM_000122.2(ERCC3):c.1828-36C>T rs113416031 0.00050
NM_000122.2(ERCC3):c.1828-33C>T rs745775695 0.00007
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407 0.00004
NM_000122.2(ERCC3):c.1828-32A>T rs773954881

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