ClinVar Miner

List of variants in gene ERCC3 reported as likely benign for Xeroderma pigmentosum group B

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000122.1(ERCC3):c.-69C>T rs9282675 0.02606
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) rs2228544 0.01471
NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) rs4150456 0.01434
NM_000122.2(ERCC3):c.1027+3A>G rs4150417 0.01248
NM_000122.2(ERCC3):c.*106T>C rs4150524 0.00895
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_000122.2(ERCC3):c.-19C>T rs184301749 0.00158
NM_000122.2(ERCC3):c.29-15G>T rs188356418 0.00016

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