ClinVar Miner

List of variants in gene ERCC3 studied for DNA repair disease

Included ClinVar conditions (124):
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Gene type:
ClinVar version:
Total variants: 129
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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.*106T>C rs4150524 0.00895
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.1008G>A (p.Gly336=) rs115924997 0.00248
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.*177A>G rs4150525 0.00151
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_000122.2(ERCC3):c.822+14C>T rs200833462 0.00091
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_000122.2(ERCC3):c.618C>T (p.Ala206=) rs145830873 0.00077
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) rs149309991 0.00051
NM_000122.2(ERCC3):c.1828-36C>T rs113416031 0.00050
NM_000122.2(ERCC3):c.2334G>A (p.Lys778=) rs147499527 0.00050
NM_000122.2(ERCC3):c.1528-9G>A rs368660980 0.00048
NM_000122.2(ERCC3):c.1730+16T>G rs202086538 0.00036
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) rs116713511 0.00025
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226 0.00024
NM_000122.2(ERCC3):c.2064+5A>G rs372749473 0.00021
NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile) rs371627165 0.00016
NM_000122.2(ERCC3):c.2218-5G>A rs201054106 0.00016
NM_000122.2(ERCC3):c.29-15G>T rs188356418 0.00016
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184 0.00016
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) rs150954655 0.00015
NM_000122.2(ERCC3):c.1078C>T (p.Arg360Cys) rs754010782 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) rs201806429 0.00011
NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp) rs368664230 0.00011
NM_000122.2(ERCC3):c.1053G>C (p.Val351=) rs373666495 0.00008
NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg) rs370519739 0.00008
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) rs371396764 0.00008
NM_000122.2(ERCC3):c.1828-33C>T rs745775695 0.00007
NM_000122.2(ERCC3):c.224C>T (p.Pro75Leu) rs553774995 0.00007
NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys) rs767507847 0.00007
NM_000122.2(ERCC3):c.529G>A (p.Val177Ile) rs139690693 0.00007
NM_000122.2(ERCC3):c.1182C>T (p.Ser394=) rs377391723 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) rs114508982 0.00006
NM_000122.2(ERCC3):c.429C>T (p.Leu143=) rs908044728 0.00006
NM_000122.2(ERCC3):c.694A>G (p.Thr232Ala) rs201383161 0.00006
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_000122.2(ERCC3):c.*138G>C rs545297258 0.00004
NM_000122.2(ERCC3):c.143A>G (p.Glu48Gly) rs769971648 0.00004
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) rs768687646 0.00004
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407 0.00004
NM_000122.2(ERCC3):c.1854G>A (p.Pro618=) rs765724086 0.00004
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=) rs146938627 0.00004
NM_000122.2(ERCC3):c.-31G>A rs766435259 0.00003
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) rs752026166 0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) rs200291162 0.00003
NM_000122.2(ERCC3):c.1731-11T>C rs746754189 0.00003
NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val) rs563550613 0.00003
NM_000122.2(ERCC3):c.2218-6C>T rs200733704 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 0.00003
NM_000122.2(ERCC3):c.1110T>C (p.Ser370=) rs774063464 0.00002
NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) rs781202683 0.00002
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs) rs774261851 0.00002
NM_000122.2(ERCC3):c.1929G>T (p.Val643=) rs375556869 0.00002
NM_000122.2(ERCC3):c.28+8G>A rs886054844 0.00002
NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg) rs199934696 0.00002
NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) rs370115857 0.00002
NM_000122.2(ERCC3):c.1156G>A (p.Asp386Asn) rs374264195 0.00001
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) rs1055129064 0.00001
NM_000122.2(ERCC3):c.122C>T (p.Ala41Val) rs1239018301 0.00001
NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg) rs771345526 0.00001
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) rs769083884 0.00001
NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu) rs759152503 0.00001
NM_000122.2(ERCC3):c.1497T>C (p.Asn499=) rs1479882729 0.00001
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048 0.00001
NM_000122.2(ERCC3):c.1635G>A (p.Gln545=) rs760111061 0.00001
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) rs1258857605 0.00001
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) rs1404157087 0.00001
NM_000122.2(ERCC3):c.1986G>A (p.Leu662=) rs1419254389 0.00001
NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn) rs587778275 0.00001
NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys) rs374262917 0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) rs763315862 0.00001
NM_000122.2(ERCC3):c.472-10G>A rs369227601 0.00001
NM_000122.2(ERCC3):c.637A>G (p.Thr213Ala) rs760681360 0.00001
NM_000122.2(ERCC3):c.657+15G>A rs781533251 0.00001
NM_000122.2(ERCC3):c.657+1G>A rs56116802 0.00001
NM_000122.2(ERCC3):c.662C>T (p.Ser221Phe) rs1167535533 0.00001
NM_000122.2(ERCC3):c.*220G>C rs1684042791
NM_000122.2(ERCC3):c.*242dup rs576058879
NM_000122.2(ERCC3):c.*83C>T rs1684047924
NM_000122.2(ERCC3):c.1011C>A (p.Val337=) rs961366896
NM_000122.2(ERCC3):c.111G>T (p.Ala37=) rs749971925
NM_000122.2(ERCC3):c.1152T>C (p.Ile384=) rs1194673433
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.1297C>G (p.Gln433Glu) rs766583866
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.1343-10G>C rs576879627
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) rs1684874632
NM_000122.2(ERCC3):c.1510A>C (p.Lys504Gln) rs2104761804
NM_000122.2(ERCC3):c.1628C>G (p.Ala543Gly)
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_000122.2(ERCC3):c.1887dup (p.Gly630fs) rs1558952235
NM_000122.2(ERCC3):c.1904A>G (p.Gln635Arg) rs1460478816
NM_000122.2(ERCC3):c.1934G>A (p.Arg645Gln)
NM_000122.2(ERCC3):c.1947G>A (p.Gly649=) rs1218748702
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys) rs568193912
NM_000122.2(ERCC3):c.2065-1G>C
NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser) rs151216904
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.2112G>T (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.2218-6C>A rs200733704
NM_000122.2(ERCC3):c.2248A>G (p.Met750Val) rs369468852
NM_000122.2(ERCC3):c.2275_2283del (p.Met759_Tyr761del)
NM_000122.2(ERCC3):c.235-1G>A rs1420747225
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.2(ERCC3):c.386T>C (p.Val129Ala) rs1315300796
NM_000122.2(ERCC3):c.411C>G (p.Thr137=) rs774188273
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)
NM_000122.2(ERCC3):c.796_797del (p.Gln266fs) rs1558962530
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000122.2(ERCC3):c.882A>G (p.Glu294=) rs1486201257

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