ClinVar Miner

List of variants in gene ERCC3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 534
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.471+52A>G rs4150402 0.75605
NM_000122.2(ERCC3):c.1945+120A>G rs4150499 0.75017
NM_000122.2(ERCC3):c.471+186T>C rs4150404 0.74404
NM_000122.2(ERCC3):c.2218-64G>A rs4662718 0.74314
NM_000122.2(ERCC3):c.823-108G>T rs4150416 0.65835
NM_000122.2(ERCC3):c.1946-256C>G rs4150514 0.19312
NC_000002.12:g.127294421A>T rs72964335 0.10286
NM_000122.2(ERCC3):c.2064+282A>G rs4150515 0.08892
NM_000122.2(ERCC3):c.235-61A>G rs2271026 0.08887
NM_000122.2(ERCC3):c.1827+64A>G rs4150487 0.08886
NM_000122.2(ERCC3):c.471+118G>A rs4150403 0.05831
NM_000122.2(ERCC3):c.472-293G>A rs62157544 0.04106
NM_000122.2(ERCC3):c.*259G>A rs1803541 0.03432
NM_000122.2(ERCC3):c.1342+231C>A rs112140423 0.03396
NM_000122.2(ERCC3):c.1528-250C>T rs4150460 0.03240
NM_000122.1(ERCC3):c.-69C>T rs9282675 0.02606
NM_000122.2(ERCC3):c.1730+266C>T rs4150463 0.01782
NM_000122.2(ERCC3):c.2218-91G>A rs113307440 0.01745
NM_000122.2(ERCC3):c.472-200G>A rs113163782 0.01582
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) rs2228544 0.01580
NM_000122.2(ERCC3):c.1527+269G>T rs4150458 0.01580
NM_000122.2(ERCC3):c.1731-251T>G rs4150483 0.01498
NM_000122.2(ERCC3):c.1731-148A>C rs4150485 0.01492
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.2065-267A>G rs4150520 0.01293
NM_000122.2(ERCC3):c.1731-196G>A rs4150484 0.01136
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_000122.2(ERCC3):c.1827+267C>T rs4150488 0.00927
NM_000122.2(ERCC3):c.823-177G>T rs4150415 0.00898
NM_000122.2(ERCC3):c.*106T>C rs4150524 0.00895
NM_000122.2(ERCC3):c.29-87C>T rs4150399 0.00893
NM_000122.2(ERCC3):c.*29C>T rs4150523 0.00736
NM_000122.2(ERCC3):c.235-215A>G rs4150400 0.00732
NM_000122.2(ERCC3):c.1731-59T>G rs56064297 0.00628
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.*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.2334G>A (p.Lys778=) rs147499527 0.00050
NM_000122.2(ERCC3):c.1528-9G>A rs368660980 0.00048
NM_000122.2(ERCC3):c.1528-11C>T rs183405317 0.00042
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.1342+19A>G rs375157035 0.00023
NM_000122.2(ERCC3):c.2064+5A>G rs372749473 0.00021
NM_000122.2(ERCC3):c.1004C>T (p.Ser335Leu) rs142333442 0.00018
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.1920A>G (p.Leu640=) rs369447216 0.00014
NM_000122.2(ERCC3):c.1727A>G (p.Asn576Ser) rs1361480597 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.1078C>T (p.Arg360Cys) rs754010782 0.00009
NM_000122.2(ERCC3):c.240C>T (p.Pro80=) rs766693494 0.00009
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.109G>A (p.Ala37Thr) rs773797861 0.00008
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) rs371396764 0.00008
NM_000122.2(ERCC3):c.1743C>T (p.Tyr581=) rs147061557 0.00008
NM_000122.2(ERCC3):c.741C>T (p.Asp247=) rs373495484 0.00008
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.1212C>T (p.Ser404=) rs377591864 0.00006
NM_000122.2(ERCC3):c.1346A>G (p.Lys449Arg) rs115481013 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000122.2(ERCC3):c.1752G>A (p.Thr584=) rs755417060 0.00006
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) rs114508982 0.00006
NM_000122.2(ERCC3):c.2203T>C (p.Ser735Pro) rs4150522 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.726T>C (p.Ser242=) rs756001958 0.00006
NM_000122.2(ERCC3):c.72T>G (p.Asp24Glu) rs531561069 0.00006
NM_000122.2(ERCC3):c.816C>G (p.Val272=) rs772525609 0.00006
NM_000122.2(ERCC3):c.2305C>A (p.Pro769Thr) rs769509766 0.00005
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_000122.2(ERCC3):c.753C>T (p.Phe251=) rs915681182 0.00005
NM_000122.2(ERCC3):c.1027+13A>G rs763595445 0.00004
NM_000122.2(ERCC3):c.1028-19G>A rs778840777 0.00004
NM_000122.2(ERCC3):c.1342+8G>T rs369959258 0.00004
NM_000122.2(ERCC3):c.1410C>T (p.Leu470=) rs199795595 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.1721G>A (p.Arg574Gln) rs373218532 0.00004
NM_000122.2(ERCC3):c.1854G>A (p.Pro618=) rs765724086 0.00004
NM_000122.2(ERCC3):c.2159C>G (p.Thr720Ser) rs780327353 0.00004
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=) rs146938627 0.00004
NM_000122.2(ERCC3):c.350A>G (p.Lys117Arg) rs1805161 0.00004
NM_000122.2(ERCC3):c.890T>C (p.Phe297Ser) rs145267069 0.00004
NM_000122.2(ERCC3):c.927C>T (p.Asp309=) rs376640712 0.00004
NM_000122.2(ERCC3):c.930A>G (p.Leu310=) rs150759935 0.00004
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.1201A>G (p.Ile401Val) rs115176021 0.00003
NM_000122.2(ERCC3):c.1333A>T (p.Thr445Ser) rs587778280 0.00003
NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) rs200291162 0.00003
NM_000122.2(ERCC3):c.1540A>G (p.Met514Val) rs755970243 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.326G>A (p.Arg109Gln) rs755616510 0.00003
NM_000122.2(ERCC3):c.412G>A (p.Glu138Lys) rs773390535 0.00003
NM_000122.2(ERCC3):c.657+16G>C rs372544078 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 0.00003
NM_000122.2(ERCC3):c.823-20C>T rs527950048 0.00003
NM_000122.2(ERCC3):c.1005G>A (p.Ser335=) rs375184289 0.00002
NM_000122.2(ERCC3):c.1110T>C (p.Ser370=) rs774063464 0.00002
NM_000122.2(ERCC3):c.1403C>T (p.Ala468Val) rs144012336 0.00002
NM_000122.2(ERCC3):c.1509C>T (p.Ala503=) rs779287672 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.2072C>T (p.Thr691Met) rs768246711 0.00002
NM_000122.2(ERCC3):c.2086A>G (p.Met696Val) rs770220564 0.00002
NM_000122.2(ERCC3):c.2120A>G (p.Glu707Gly) rs775232626 0.00002
NM_000122.2(ERCC3):c.2303C>T (p.Ala768Val) rs372094432 0.00002
NM_000122.2(ERCC3):c.234+9G>T rs370032908 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.384C>T (p.Ser128=) rs764755476 0.00002
NM_000122.2(ERCC3):c.657C>T (p.Ala219=) rs771683698 0.00002
NM_000122.2(ERCC3):c.1038G>A (p.Lys346=) rs1024727542 0.00001
NM_000122.2(ERCC3):c.105G>A (p.Gln35=) rs1373227745 0.00001
NM_000122.2(ERCC3):c.1079G>A (p.Arg360His) rs764062606 0.00001
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) rs1055129064 0.00001
NM_000122.2(ERCC3):c.1224C>T (p.Ser408=) rs1427990869 0.00001
NM_000122.2(ERCC3):c.1250C>T (p.Thr417Ile) rs749619361 0.00001
NM_000122.2(ERCC3):c.1317C>G (p.Ile439Met) rs772991846 0.00001
NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg) rs771345526 0.00001
NM_000122.2(ERCC3):c.1336A>G (p.Ile446Val) rs776211616 0.00001
NM_000122.2(ERCC3):c.1342+6C>G rs1351753110 0.00001
NM_000122.2(ERCC3):c.1358G>A (p.Arg453Lys) rs748473025 0.00001
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) rs769083884 0.00001
NM_000122.2(ERCC3):c.1416C>T (p.Arg472=) rs764135558 0.00001
NM_000122.2(ERCC3):c.1417G>A (p.Glu473Lys) rs1369244363 0.00001
NM_000122.2(ERCC3):c.1451T>C (p.Ile484Thr) rs371767613 0.00001
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) rs1302552127 0.00001
NM_000122.2(ERCC3):c.1628C>T (p.Ala543Val) rs752934885 0.00001
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048 0.00001
NM_000122.2(ERCC3):c.1670A>G (p.Lys557Arg) rs1445759342 0.00001
NM_000122.2(ERCC3):c.1700C>T (p.Ala567Val) rs1474396878 0.00001
NM_000122.2(ERCC3):c.1731-6C>T rs779977653 0.00001
NM_000122.2(ERCC3):c.1773A>C (p.Gln591His) rs1460059364 0.00001
NM_000122.2(ERCC3):c.1886A>T (p.His629Leu) rs753886932 0.00001
NM_000122.2(ERCC3):c.1900C>T (p.Arg634Cys) rs1174382080 0.00001
NM_000122.2(ERCC3):c.1924C>A (p.Arg642=) rs759338358 0.00001
NM_000122.2(ERCC3):c.1984C>T (p.Leu662=) rs769459038 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.2064+8T>A rs1303099207 0.00001
NM_000122.2(ERCC3):c.2077C>T (p.Leu693Phe) rs774621930 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.2187G>A (p.Val729=) rs755667383 0.00001
NM_000122.2(ERCC3):c.2260G>A (p.Asp754Asn) rs779748578 0.00001
NM_000122.2(ERCC3):c.2263G>A (p.Asp755Asn) rs115312738 0.00001
NM_000122.2(ERCC3):c.2270T>A (p.Val757Glu) rs1210108802 0.00001
NM_000122.2(ERCC3):c.2292G>A (p.Ser764=) rs759695823 0.00001
NM_000122.2(ERCC3):c.2293C>T (p.Arg765Trp) rs774571443 0.00001
NM_000122.2(ERCC3):c.2294G>A (p.Arg765Gln) rs771245959 0.00001
NM_000122.2(ERCC3):c.336T>C (p.His112=) rs752107242 0.00001
NM_000122.2(ERCC3):c.472-10G>A rs369227601 0.00001
NM_000122.2(ERCC3):c.49C>A (p.Arg17=) rs779316093 0.00001
NM_000122.2(ERCC3):c.522-11C>T rs1399712660 0.00001
NM_000122.2(ERCC3):c.565C>A (p.Leu189Ile) rs768670201 0.00001
NM_000122.2(ERCC3):c.593G>A (p.Arg198His) rs748503195 0.00001
NM_000122.2(ERCC3):c.655G>A (p.Ala219Thr) rs374275821 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.658-15C>T rs1329349315 0.00001
NM_000122.2(ERCC3):c.659_660insA (p.Ser221fs) rs1391179566 0.00001
NM_000122.2(ERCC3):c.667A>G (p.Thr223Ala) rs780564758 0.00001
NM_000122.2(ERCC3):c.690C>T (p.Pro230=) rs1390276653 0.00001
NM_000122.2(ERCC3):c.721A>G (p.Lys241Glu) rs777749462 0.00001
NM_000122.2(ERCC3):c.801A>G (p.Thr267=) rs761043998 0.00001
NM_000122.2(ERCC3):c.823-15G>A rs761454370 0.00001
NM_000122.2(ERCC3):c.877G>A (p.Ala293Thr) rs142304812 0.00001
NM_000122.2(ERCC3):c.892C>T (p.Arg298Trp) rs764717311 0.00001
NM_000122.2(ERCC3):c.991G>A (p.Gly331Arg) rs745564603 0.00001
NC_000002.11:g.(?_128015172)_(128051657_?)dup
NC_000002.11:g.(?_128044259)_(128044613_?)del
NC_000002.11:g.(?_128045217)_(128046966_?)del
NC_000002.11:g.(?_128046216)_(128051657_?)del
NM_000122.2(ERCC3):c.*242dup rs576058879
NM_000122.2(ERCC3):c.1000C>G (p.Arg334Gly) rs1308398082
NM_000122.2(ERCC3):c.1002T>C (p.Arg334=)
NM_000122.2(ERCC3):c.1015G>A (p.Val339Ile)
NM_000122.2(ERCC3):c.1015G>T (p.Val339Phe) rs1558961958
NM_000122.2(ERCC3):c.1023C>A (p.Pro341=) rs2104774314
NM_000122.2(ERCC3):c.1023del (p.Cys342fs)
NM_000122.2(ERCC3):c.1027+269G>A rs4150418
NM_000122.2(ERCC3):c.1027+8G>A
NM_000122.2(ERCC3):c.1028-12del
NM_000122.2(ERCC3):c.1057G>C (p.Ala353Pro) rs780953436
NM_000122.2(ERCC3):c.1061C>T (p.Ala354Val)
NM_000122.2(ERCC3):c.1062A>G (p.Ala354=)
NM_000122.2(ERCC3):c.1082G>C (p.Cys361Ser) rs775716891
NM_000122.2(ERCC3):c.1084C>T (p.Leu362=)
NM_000122.2(ERCC3):c.1113G>T (p.Val371=)
NM_000122.2(ERCC3):c.1116G>A (p.Glu372=)
NM_000122.2(ERCC3):c.111G>T (p.Ala37=) rs749971925
NM_000122.2(ERCC3):c.1129C>T (p.Gln377Ter)
NM_000122.2(ERCC3):c.1130A>T (p.Gln377Leu) rs1685090557
NM_000122.2(ERCC3):c.1146C>A (p.Ser382=)
NM_000122.2(ERCC3):c.1150A>T (p.Ile384Phe) rs1024820965
NM_000122.2(ERCC3):c.1163A>G (p.Gln388Arg)
NM_000122.2(ERCC3):c.1165A>T (p.Ile389Phe) rs756167411
NM_000122.2(ERCC3):c.1167C>A (p.Ile389=)
NM_000122.2(ERCC3):c.1183G>A (p.Asp395Asn)
NM_000122.2(ERCC3):c.1203C>A (p.Ile401=)
NM_000122.2(ERCC3):c.1203C>T (p.Ile401=)
NM_000122.2(ERCC3):c.1204G>A (p.Gly402Ser)
NM_000122.2(ERCC3):c.120G>A (p.Ser40=)
NM_000122.2(ERCC3):c.1223G>A (p.Ser408Asn) rs1685083340
NM_000122.2(ERCC3):c.1227C>A (p.Thr409=)
NM_000122.2(ERCC3):c.1245C>T (p.His415=)
NM_000122.2(ERCC3):c.1268C>T (p.Ala423Val)
NM_000122.2(ERCC3):c.126G>A (p.Ala42=)
NM_000122.2(ERCC3):c.1270G>A (p.Glu424Lys)
NM_000122.2(ERCC3):c.1273C>A (p.Arg425=)
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.1274G>A (p.Arg425Gln)
NM_000122.2(ERCC3):c.1291A>C (p.Lys431Gln) rs1573957226
NM_000122.2(ERCC3):c.1299G>A (p.Gln433=) rs1685080343
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.1302G>A (p.Glu434=) rs2104770796
NM_000122.2(ERCC3):c.1319T>C (p.Leu440Pro)
NM_000122.2(ERCC3):c.1329G>A (p.Val443=)
NM_000122.2(ERCC3):c.132G>A (p.Lys44=)
NM_000122.2(ERCC3):c.1337dup (p.Pro447fs)
NM_000122.2(ERCC3):c.133C>T (p.Gln45Ter)
NM_000122.2(ERCC3):c.1341A>T (p.Pro447=)
NM_000122.2(ERCC3):c.1342+157del rs111463049
NM_000122.2(ERCC3):c.1343-19G>A
NM_000122.2(ERCC3):c.1343-280C>T
NM_000122.2(ERCC3):c.1378G>T (p.Ala460Ser) rs1413024779
NM_000122.2(ERCC3):c.1385_1386del (p.His461_Cys462insTer) rs2104762167
NM_000122.2(ERCC3):c.1392G>A (p.Leu464=)
NM_000122.2(ERCC3):c.1395T>G (p.Gly465=)
NM_000122.2(ERCC3):c.13G>A (p.Asp5Asn)
NM_000122.2(ERCC3):c.1406C>A (p.Thr469Asn)
NM_000122.2(ERCC3):c.1410C>G (p.Leu470=) rs199795595
NM_000122.2(ERCC3):c.1415G>A (p.Arg472His)
NM_000122.2(ERCC3):c.1436A>G (p.Asp479Gly) rs1684874806
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) rs1684874632
NM_000122.2(ERCC3):c.1462C>A (p.Leu488Ile)
NM_000122.2(ERCC3):c.1466A>G (p.Tyr489Cys)
NM_000122.2(ERCC3):c.1467C>T (p.Tyr489=)
NM_000122.2(ERCC3):c.146C>G (p.Ser49Ter)
NM_000122.2(ERCC3):c.1475A>G (p.Asn492Ser)
NM_000122.2(ERCC3):c.1480A>G (p.Met494Val)
NM_000122.2(ERCC3):c.1483G>C (p.Glu495Gln)
NM_000122.2(ERCC3):c.1507G>A (p.Ala503Thr)
NM_000122.2(ERCC3):c.150C>T (p.Gly50=)
NM_000122.2(ERCC3):c.1515C>T (p.Val505=) rs1323761671
NM_000122.2(ERCC3):c.1527+10C>T
NM_000122.2(ERCC3):c.1527+3A>G
NM_000122.2(ERCC3):c.1528-15C>T
NM_000122.2(ERCC3):c.1528-16_1528-8del
NM_000122.2(ERCC3):c.1528-192C>A rs4150461
NM_000122.2(ERCC3):c.1528-4A>G
NM_000122.2(ERCC3):c.1558C>G (p.Arg520Gly)
NM_000122.2(ERCC3):c.1559G>A (p.Arg520Gln) rs1034515602
NM_000122.2(ERCC3):c.1566T>C (p.Tyr522=)
NM_000122.2(ERCC3):c.1581C>G (p.Thr527=)
NM_000122.2(ERCC3):c.1588C>A (p.Arg530=) rs1302552127
NM_000122.2(ERCC3):c.1599G>A (p.Leu533=)
NM_000122.2(ERCC3):c.15C>T (p.Asp5=)
NM_000122.2(ERCC3):c.1605C>G (p.Thr535=)
NM_000122.2(ERCC3):c.1616A>G (p.Asn539Ser)
NM_000122.2(ERCC3):c.1622T>G (p.Phe541Cys)
NM_000122.2(ERCC3):c.1631G>A (p.Cys544Tyr)
NM_000122.2(ERCC3):c.1636T>C (p.Phe546Leu) rs774624418
NM_000122.2(ERCC3):c.1644C>G (p.Ile548Met)
NM_000122.2(ERCC3):c.1685_1686del (p.Ala562fs)
NM_000122.2(ERCC3):c.1689C>T (p.Asp563=)
NM_000122.2(ERCC3):c.1704A>G (p.Leu568=) rs1187905742
NM_000122.2(ERCC3):c.1730+11A>C
NM_000122.2(ERCC3):c.1730+17T>G
NM_000122.2(ERCC3):c.1730+8T>C rs1231225197
NM_000122.2(ERCC3):c.1731-17G>A rs1684609907
NM_000122.2(ERCC3):c.1731-2A>G
NM_000122.2(ERCC3):c.1731-6C>G
NM_000122.2(ERCC3):c.1733C>T (p.Pro578Leu)
NM_000122.2(ERCC3):c.1735del (p.Tyr579fs)
NM_000122.2(ERCC3):c.174del (p.Lys59fs)
NM_000122.2(ERCC3):c.1755T>C (p.Ser585=)
NM_000122.2(ERCC3):c.1760G>A (p.Gly587Glu) rs1684606993
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000122.2(ERCC3):c.1771C>T (p.Gln591Ter)
NM_000122.2(ERCC3):c.177G>A (p.Lys59=)
NM_000122.2(ERCC3):c.1807A>T (p.Asn603Tyr)
NM_000122.2(ERCC3):c.1813A>G (p.Ile605Val)
NM_000122.2(ERCC3):c.1814T>A (p.Ile605Asn) rs1684605612
NM_000122.2(ERCC3):c.1827+10G>A
NM_000122.2(ERCC3):c.1827+14A>G
NM_000122.2(ERCC3):c.1827+19G>A
NM_000122.2(ERCC3):c.1828-1G>C
NM_000122.2(ERCC3):c.1828-37del rs11345447
NM_000122.2(ERCC3):c.1828-7T>C
NM_000122.2(ERCC3):c.1831G>C (p.Gly611Arg) rs2104748074
NM_000122.2(ERCC3):c.1841C>T (p.Ser614Leu)
NM_000122.2(ERCC3):c.1842G>A (p.Ser614=)
NM_000122.2(ERCC3):c.1842G>C (p.Ser614=)
NM_000122.2(ERCC3):c.1852C>T (p.Pro618Ser)
NM_000122.2(ERCC3):c.1854G>C (p.Pro618=)
NM_000122.2(ERCC3):c.1855G>A (p.Glu619Lys)
NM_000122.2(ERCC3):c.1895C>T (p.Ser632Phe) rs1393523547
NM_000122.2(ERCC3):c.1906del (p.Glu636fs)
NM_000122.2(ERCC3):c.1908A>G (p.Glu636=)
NM_000122.2(ERCC3):c.1924C>T (p.Arg642Trp) rs759338358
NM_000122.2(ERCC3):c.1925G>A (p.Arg642Gln)
NM_000122.2(ERCC3):c.1926G>A (p.Arg642=) rs774181315
NM_000122.2(ERCC3):c.1933C>G (p.Arg645Gly)
NM_000122.2(ERCC3):c.1941A>G (p.Lys647=)
NM_000122.2(ERCC3):c.1944A>C (p.Lys648Asn)
NM_000122.2(ERCC3):c.1944A>T (p.Lys648Asn) rs2104747727
NM_000122.2(ERCC3):c.1945+10C>A rs184374356
NM_000122.2(ERCC3):c.1945+10C>G
NM_000122.2(ERCC3):c.1945+16A>C
NM_000122.2(ERCC3):c.1945+6_1945+14del
NM_000122.2(ERCC3):c.1946-18T>C
NM_000122.2(ERCC3):c.1946-6C>A
NM_000122.2(ERCC3):c.1946-8dup
NM_000122.2(ERCC3):c.1946-9T>A
NM_000122.2(ERCC3):c.1947G>T (p.Gly649=)
NM_000122.2(ERCC3):c.1954G>A (p.Ala652Thr)
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys) rs568193912
NM_000122.2(ERCC3):c.1962G>A (p.Glu654=)
NM_000122.2(ERCC3):c.1962G>C (p.Glu654Asp)
NM_000122.2(ERCC3):c.1968T>C (p.Asn656=)
NM_000122.2(ERCC3):c.1977C>T (p.Phe659=)
NM_000122.2(ERCC3):c.198G>A (p.Pro66=)
NM_000122.2(ERCC3):c.1993C>G (p.Gln665Glu)
NM_000122.2(ERCC3):c.1998C>T (p.Asp666=)
NM_000122.2(ERCC3):c.2016C>T (p.Tyr672=)
NM_000122.2(ERCC3):c.2020A>G (p.Thr674Ala)
NM_000122.2(ERCC3):c.2022C>G (p.Thr674=)
NM_000122.2(ERCC3):c.2026C>T (p.Arg676Trp) rs922942314
NM_000122.2(ERCC3):c.2043A>C (p.Val681=)
NM_000122.2(ERCC3):c.2064+334_2064+343del rs4150516
NM_000122.2(ERCC3):c.2064+4C>T rs975748269
NM_000122.2(ERCC3):c.2064G>C (p.Lys688Asn)
NM_000122.2(ERCC3):c.2065-16G>A
NM_000122.2(ERCC3):c.2065-6T>G
NM_000122.2(ERCC3):c.2079C>T (p.Leu693=)
NM_000122.2(ERCC3):c.2082T>C (p.Ala694=)
NM_000122.2(ERCC3):c.2098G>T (p.Asp700Tyr)
NM_000122.2(ERCC3):c.20C>T (p.Ala7Val)
NM_000122.2(ERCC3):c.2109T>C (p.Phe703=) rs1023249904
NM_000122.2(ERCC3):c.210C>G (p.Asp70Glu)
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.2136C>T (p.Leu712=)
NM_000122.2(ERCC3):c.2138T>C (p.Leu713Ser)
NM_000122.2(ERCC3):c.2140C>G (p.Gln714Glu)
NM_000122.2(ERCC3):c.2146G>A (p.Val716Ile)
NM_000122.2(ERCC3):c.2163C>T (p.Asp721=)
NM_000122.2(ERCC3):c.216C>T (p.Thr72=)
NM_000122.2(ERCC3):c.2172C>T (p.Ala724=) rs778824043
NM_000122.2(ERCC3):c.217T>G (p.Ser73Ala) rs2104782786
NM_000122.2(ERCC3):c.2205C>T (p.Ser735=)
NM_000122.2(ERCC3):c.2207G>T (p.Arg736Ile) rs587778276
NM_000122.2(ERCC3):c.2208A>C (p.Arg736Ser) rs2104728517
NM_000122.2(ERCC3):c.2210C>G (p.Ser737Cys)
NM_000122.2(ERCC3):c.2218-10T>A
NM_000122.2(ERCC3):c.2218-11C>T rs866486912
NM_000122.2(ERCC3):c.2218-16T>A
NM_000122.2(ERCC3):c.2218-17T>C
NM_000122.2(ERCC3):c.2218-18G>C
NM_000122.2(ERCC3):c.2218-8C>G
NM_000122.2(ERCC3):c.2227C>T (p.Arg743Cys)
NM_000122.2(ERCC3):c.2247T>C (p.Ser749=)
NM_000122.2(ERCC3):c.2248A>C (p.Met750Leu) rs369468852
NM_000122.2(ERCC3):c.2253T>G (p.Ser751=)
NM_000122.2(ERCC3):c.2259C>T (p.Ala753=) rs751002614
NM_000122.2(ERCC3):c.225C>A (p.Pro75=) rs1331968980
NM_000122.2(ERCC3):c.225C>T (p.Pro75=) rs1331968980
NM_000122.2(ERCC3):c.2262C>T (p.Asp754=)
NM_000122.2(ERCC3):c.226C>G (p.Leu76Val) rs1685350770
NM_000122.2(ERCC3):c.2285A>G (p.His762Arg) rs1684056933
NM_000122.2(ERCC3):c.2286C>G (p.His762Gln) rs1684056789
NM_000122.2(ERCC3):c.2293C>A (p.Arg765=)
NM_000122.2(ERCC3):c.229del (p.Trp77fs)
NM_000122.2(ERCC3):c.2301G>A (p.Lys767=)
NM_000122.2(ERCC3):c.2303C>G (p.Ala768Gly)
NM_000122.2(ERCC3):c.2304G>A (p.Ala768=)
NM_000122.2(ERCC3):c.2306C>T (p.Pro769Leu) rs2104725653
NM_000122.2(ERCC3):c.2325G>A (p.Pro775=)
NM_000122.2(ERCC3):c.2336G>A (p.Arg779His)
NM_000122.2(ERCC3):c.234+10C>T
NM_000122.2(ERCC3):c.234+4_234+7dup
NM_000122.2(ERCC3):c.234+4del rs1258971389
NM_000122.2(ERCC3):c.235-11G>A
NM_000122.2(ERCC3):c.235-16A>T
NM_000122.2(ERCC3):c.235-18C>T
NM_000122.2(ERCC3):c.235-7C>T
NM_000122.2(ERCC3):c.241G>A (p.Asp81Asn)
NM_000122.2(ERCC3):c.261A>G (p.Glu87=)
NM_000122.2(ERCC3):c.28+11G>A
NM_000122.2(ERCC3):c.28+11G>C
NM_000122.2(ERCC3):c.28+15G>C
NM_000122.2(ERCC3):c.28+15G>T
NM_000122.2(ERCC3):c.28+17G>C
NM_000122.2(ERCC3):c.28+19A>G
NM_000122.2(ERCC3):c.28+20C>T rs1214797721
NM_000122.2(ERCC3):c.284A>G (p.Tyr95Cys)
NM_000122.2(ERCC3):c.288C>T (p.Ala96=)
NM_000122.2(ERCC3):c.29-10T>C rs1685362179
NM_000122.2(ERCC3):c.29-18T>G
NM_000122.2(ERCC3):c.29-19C>T
NM_000122.2(ERCC3):c.29-23_29-20del rs1459994060
NM_000122.2(ERCC3):c.29-9A>G rs1685362067
NM_000122.2(ERCC3):c.306T>C (p.Ala102=)
NM_000122.2(ERCC3):c.307A>G (p.Ile103Val) rs587778278
NM_000122.2(ERCC3):c.315G>A (p.Glu105=) rs201698871
NM_000122.2(ERCC3):c.315G>C (p.Glu105Asp)
NM_000122.2(ERCC3):c.31A>G (p.Lys11Glu) rs2104783457
NM_000122.2(ERCC3):c.32A>T (p.Lys11Met) rs199934696
NM_000122.2(ERCC3):c.330A>C (p.Pro110=) rs1220812891
NM_000122.2(ERCC3):c.338dup (p.His114fs)
NM_000122.2(ERCC3):c.347A>G (p.Tyr116Cys)
NM_000122.2(ERCC3):c.348C>T (p.Tyr116=) rs931691852
NM_000122.2(ERCC3):c.354A>C (p.Leu118=)
NM_000122.2(ERCC3):c.363C>G (p.Tyr121Ter)
NM_000122.2(ERCC3):c.383G>T (p.Ser128Ile) rs2104781091
NM_000122.2(ERCC3):c.391C>G (p.Leu131Val)
NM_000122.2(ERCC3):c.426G>A (p.Lys142=)
NM_000122.2(ERCC3):c.430A>G (p.Ser144Gly) rs2104780927
NM_000122.2(ERCC3):c.437C>T (p.Thr146Ile)
NM_000122.2(ERCC3):c.444C>A (p.Val148=)
NM_000122.2(ERCC3):c.45G>A (p.Arg15=)
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000122.2(ERCC3):c.461A>G (p.Gln154Arg)
NM_000122.2(ERCC3):c.464TTA[1] (p.Ile156del)
NM_000122.2(ERCC3):c.471+13T>C
NM_000122.2(ERCC3):c.471+20A>G
NM_000122.2(ERCC3):c.471+4A>G rs1685309373
NM_000122.2(ERCC3):c.472-12C>T
NM_000122.2(ERCC3):c.472-8A>C
NM_000122.2(ERCC3):c.472-99G>T rs41269831
NM_000122.2(ERCC3):c.478A>G (p.Thr160Ala)
NM_000122.2(ERCC3):c.48G>A (p.Lys16=)
NM_000122.2(ERCC3):c.492A>G (p.Gly164=)
NM_000122.2(ERCC3):c.498C>G (p.Val166=)
NM_000122.2(ERCC3):c.500A>G (p.Lys167Arg) rs2104777473
NM_000122.2(ERCC3):c.508T>C (p.Leu170=)
NM_000122.2(ERCC3):c.518A>G (p.Asn173Ser)
NM_000122.2(ERCC3):c.521+11C>G
NM_000122.2(ERCC3):c.521+11C>T
NM_000122.2(ERCC3):c.521+16A>G
NM_000122.2(ERCC3):c.521+3A>C rs1191350523
NM_000122.2(ERCC3):c.522-10C>G
NM_000122.2(ERCC3):c.522-3C>G
NM_000122.2(ERCC3):c.522-8G>C
NM_000122.2(ERCC3):c.540C>T (p.Cys180=)
NM_000122.2(ERCC3):c.549T>C (p.Asp183=)
NM_000122.2(ERCC3):c.555C>A (p.Ile185=)
NM_000122.2(ERCC3):c.568C>T (p.Gln190Ter)
NM_000122.2(ERCC3):c.576C>T (p.Pro192=)
NM_000122.2(ERCC3):c.576_583del (p.Val193fs)
NM_000122.2(ERCC3):c.577G>A (p.Val193Met)
NM_000122.2(ERCC3):c.579_580insT (p.Ile194fs)
NM_000122.2(ERCC3):c.583C>G (p.Arg195Gly)
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.2(ERCC3):c.584G>T (p.Arg195Leu) rs1467693328
NM_000122.2(ERCC3):c.5G>A (p.Gly2Asp) rs866954274
NM_000122.2(ERCC3):c.60_71dup (p.Glu23_Asp24insGluAspGluGlu)
NM_000122.2(ERCC3):c.620C>G (p.Thr207Ser)
NM_000122.2(ERCC3):c.629T>C (p.Ile210Thr)
NM_000122.2(ERCC3):c.641T>C (p.Phe214Ser)
NM_000122.2(ERCC3):c.649_652del (p.Lys217fs)
NM_000122.2(ERCC3):c.657+6T>C
NM_000122.2(ERCC3):c.658-24G>C rs4150413
NM_000122.2(ERCC3):c.658-3C>G
NM_000122.2(ERCC3):c.659T>G (p.Ile220Ser)
NM_000122.2(ERCC3):c.678_680del (p.Ser227del) rs1188708904
NM_000122.2(ERCC3):c.686G>C (p.Gly229Ala)
NM_000122.2(ERCC3):c.701G>A (p.Arg234Gln) rs1249110579
NM_000122.2(ERCC3):c.727G>T (p.Asp243Tyr)
NM_000122.2(ERCC3):c.72_83del (p.21DEED[1])
NM_000122.2(ERCC3):c.731del (p.Ile244fs)
NM_000122.2(ERCC3):c.733C>T (p.Pro245Ser)
NM_000122.2(ERCC3):c.751T>C (p.Phe251Leu)
NM_000122.2(ERCC3):c.75T>C (p.Asp25=)
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)
NM_000122.2(ERCC3):c.765G>A (p.Met255Ile)
NM_000122.2(ERCC3):c.768C>G (p.Asp256Glu)
NM_000122.2(ERCC3):c.777AGA[3] (p.Glu263_Glu264del) rs761456808
NM_000122.2(ERCC3):c.777AGA[4] (p.Glu264del) rs761456808
NM_000122.2(ERCC3):c.777AGA[6] (p.Glu264_Thr265insGlu)
NM_000122.2(ERCC3):c.792G>A (p.Glu264=) rs1553513099
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000122.2(ERCC3):c.822+13A>G
NM_000122.2(ERCC3):c.822+17del
NM_000122.2(ERCC3):c.823-8C>T
NM_000122.2(ERCC3):c.823G>C (p.Glu275Gln) rs1685168934
NM_000122.2(ERCC3):c.828G>T (p.Met276Ile)
NM_000122.2(ERCC3):c.832G>T (p.Glu278Ter)
NM_000122.2(ERCC3):c.848G>A (p.Arg283His)
NM_000122.2(ERCC3):c.862del (p.Glu288fs) rs2104774793
NM_000122.2(ERCC3):c.864G>A (p.Glu288=)
NM_000122.2(ERCC3):c.88C>T (p.Pro30Ser)
NM_000122.2(ERCC3):c.890T>G (p.Phe297Cys)
NM_000122.2(ERCC3):c.891C>T (p.Phe297=)
NM_000122.2(ERCC3):c.89C>T (p.Pro30Leu)
NM_000122.2(ERCC3):c.8A>G (p.Lys3Arg)
NM_000122.2(ERCC3):c.916A>G (p.Ile306Val)
NM_000122.2(ERCC3):c.921C>T (p.Asn307=)
NM_000122.2(ERCC3):c.942T>C (p.Ala314=) rs2104774586
NM_000122.2(ERCC3):c.943G>C (p.Val315Leu) rs1685164794
NM_000122.2(ERCC3):c.948C>T (p.Leu316=)
NM_000122.2(ERCC3):c.956A>G (p.Tyr319Cys)
NM_000122.2(ERCC3):c.968G>A (p.Ser323Asn) rs776936481
NM_000122.2(ERCC3):c.96C>T (p.Asn32=)
NM_000122.2(ERCC3):c.971del (p.Leu324fs)
NM_000122.2(ERCC3):c.973C>T (p.Arg325Ter)
NM_000122.2(ERCC3):c.990C>T (p.Asn330=)
NM_000122.2(ERCC3):c.992G>T (p.Gly331Val) rs1685162601

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