ClinVar Miner

List of variants in gene ERCC4 reported by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) rs373587423 0.00001
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys)
NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met)
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys)
NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe)
NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp)
NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser)
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter) rs2141946068
NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg)

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