ClinVar Miner

List of variants in gene ERCC3 studied for DNA repair disease

Included ClinVar conditions (106):
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP
ERCC3, IVS14AS, C-A, -6
NM_000122.1(ERCC3):c.*106T>C rs4150524
NM_000122.1(ERCC3):c.*177A>G rs4150525
NM_000122.1(ERCC3):c.*242dup rs576058879
NM_000122.1(ERCC3):c.*259G>A rs1803541
NM_000122.1(ERCC3):c.*29C>T rs4150523
NM_000122.1(ERCC3):c.-19C>T rs184301749
NM_000122.1(ERCC3):c.-69C>T rs9282675
NM_000122.1(ERCC3):c.-98A>G rs4150398
NM_000122.1(ERCC3):c.1026C>T (p.Cys342=) rs752026166
NM_000122.1(ERCC3):c.1027+3A>G rs4150417
NM_000122.1(ERCC3):c.1078C>T (p.Arg360Cys) rs754010782
NM_000122.1(ERCC3):c.1119G>A (p.Gln373=) rs2228544
NM_000122.1(ERCC3):c.1155C>T (p.Asp385=) rs371396764
NM_000122.1(ERCC3):c.1156G>A (p.Asp386Asn) rs374264195
NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.1(ERCC3):c.1371C>T (p.Ile457=) rs769083884
NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000122.1(ERCC3):c.1485G>A (p.Glu495=) rs4150456
NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048
NM_000122.1(ERCC3):c.1731-11T>C rs746754189
NM_000122.1(ERCC3):c.1757_1758del (p.Gln586fs) rs774261851
NM_000122.1(ERCC3):c.1887dup (p.Gly630fs) rs1558952235
NM_000122.1(ERCC3):c.1929G>T (p.Val643=) rs375556869
NM_000122.1(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904
NM_000122.1(ERCC3):c.2105C>T (p.Ala702Val) rs563550613
NM_000122.1(ERCC3):c.2106G>A (p.Ala702=) rs114508982
NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000122.1(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.1(ERCC3):c.254T>G (p.Phe85Cys) rs767507847
NM_000122.1(ERCC3):c.279C>T (p.Tyr93=) rs146938627
NM_000122.1(ERCC3):c.28+8G>A rs886054844
NM_000122.1(ERCC3):c.29-15G>T rs188356418
NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) rs370115857
NM_000122.1(ERCC3):c.385G>A (p.Val129Ile) rs145762413
NM_000122.1(ERCC3):c.471+1G>A rs1558964705
NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.1(ERCC3):c.615G>A (p.Glu205=) rs13427563
NM_000122.1(ERCC3):c.618C>T (p.Ala206=) rs145830873
NM_000122.1(ERCC3):c.657+15G>A rs781533251
NM_000122.1(ERCC3):c.794_795CA[1] (p.Gln266fs) rs1558962530
NM_000122.1(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000122.1(ERCC3):c.822+14C>T rs200833462
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000122.2(ERCC3):c.*138G>C
NM_000122.2(ERCC3):c.*220G>C
NM_000122.2(ERCC3):c.*83C>T
NM_000122.2(ERCC3):c.-31G>A
NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg)
NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)
NM_000122.2(ERCC3):c.1152T>C (p.Ile384=)
NM_000122.2(ERCC3):c.1182C>T (p.Ser394=)
NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg)
NM_000122.2(ERCC3):c.1335C>T (p.Thr445=) rs4150422
NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile)
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp)
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_000122.2(ERCC3):c.1828-33C>T rs745775695
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407
NM_000122.2(ERCC3):c.1828-36C>T rs113416031
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) rs1404157087
NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)
NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser)
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg)
NM_000122.2(ERCC3):c.2218-5G>A rs201054106
NM_000122.2(ERCC3):c.2218-6C>T rs200733704
NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp)
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226
NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly)
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000122.2(ERCC3):c.529G>A (p.Val177Ile)

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