ClinVar Miner

List of variants in gene TXNRD2 studied for Primary dilated cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 531
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HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.1109T>C (p.Ile370Thr) rs1139793 0.77627
NM_006440.5(TXNRD2):c.177C>T (p.Ala59=) rs5748470 0.50192
NM_006440.5(TXNRD2):c.196G>T (p.Ala66Ser) rs5748469 0.35646
NM_006440.5(TXNRD2):c.1206G>A (p.Pro402=) rs1139795 0.27722
NM_006440.5(TXNRD2):c.774+14C>A rs12169091 0.25670
NM_006440.5(TXNRD2):c.1086+17G>A rs2239893 0.25072
NM_006440.5(TXNRD2):c.103+340G>A rs2020917 0.21780
NM_006440.5(TXNRD2):c.246C>T (p.Leu82=) rs11541479 0.20721
NM_006440.5(TXNRD2):c.662+14G>A rs9606176 0.13466
NM_006440.5(TXNRD2):c.1347+20A>G rs113605285 0.07704
NM_006440.5(TXNRD2):c.662+13C>T rs45550336 0.03446
NM_006440.5(TXNRD2):c.374+13C>T rs9606178 0.02314
NM_006440.5(TXNRD2):c.526G>C (p.Glu176Gln) rs61736929 0.02223
NM_006440.5(TXNRD2):c.1099C>T (p.Leu367=) rs35544159 0.01485
NM_006440.5(TXNRD2):c.1445+18C>T rs41431147 0.01166
NM_006440.5(TXNRD2):c.1233C>T (p.Ser411=) rs35099271 0.00966
NM_006440.5(TXNRD2):c.591+18del rs200848663 0.00754
NM_006440.5(TXNRD2):c.375-19T>G rs147120537 0.00527
NM_006440.5(TXNRD2):c.529-6C>T rs116054286 0.00525
NM_006440.5(TXNRD2):c.1087-11C>T rs577814757 0.00470
NM_006440.5(TXNRD2):c.210C>T (p.Tyr70=) rs186462665 0.00321
NM_006440.5(TXNRD2):c.816C>T (p.Gly272=) rs144584524 0.00266
NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu) rs148092370 0.00150
NM_006440.5(TXNRD2):c.505G>A (p.Gly169Ser) rs138462062 0.00128
NM_006440.5(TXNRD2):c.933C>T (p.Thr311=) rs187065627 0.00108
NM_006440.5(TXNRD2):c.1195G>A (p.Val399Ile) rs201222740 0.00104
NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His) rs201391000 0.00102
NM_006440.5(TXNRD2):c.762C>T (p.Arg254=) rs180876642 0.00101
NM_006440.5(TXNRD2):c.1016A>T (p.Gln339Leu) rs200606822 0.00098
NM_006440.5(TXNRD2):c.374+17G>A rs200108545 0.00080
NM_006440.5(TXNRD2):c.303A>G (p.Ala101=) rs200076623 0.00067
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_006440.5(TXNRD2):c.1461T>C (p.Tyr487=) rs376363162 0.00054
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His) rs201971987 0.00052
NM_006440.5(TXNRD2):c.775-19G>A rs189646218 0.00047
NM_006440.5(TXNRD2):c.1509G>A (p.Glu503=) rs200619889 0.00045
NM_006440.5(TXNRD2):c.1499G>T (p.Cys500Phe) rs554063995 0.00044
NM_006440.5(TXNRD2):c.592-17C>A rs375350567 0.00044
NM_006440.5(TXNRD2):c.375-8C>T rs180876844 0.00042
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala) rs199510610 0.00042
NM_006440.5(TXNRD2):c.462C>T (p.Tyr154=) rs182857388 0.00038
NM_006440.5(TXNRD2):c.662+11C>G rs373734411 0.00038
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr) rs201913959 0.00035
NM_006440.5(TXNRD2):c.1086+12G>A rs143966577 0.00031
NM_006440.5(TXNRD2):c.1308C>T (p.Phe436=) rs190301927 0.00031
NM_006440.5(TXNRD2):c.229+15A>G rs370756162 0.00029
NM_006440.5(TXNRD2):c.957C>G (p.Val319=) rs371700934 0.00024
NM_006440.5(TXNRD2):c.1077C>T (p.Asp359=) rs147383232 0.00021
NM_006440.5(TXNRD2):c.1275+18C>T rs374333900 0.00021
NM_006440.5(TXNRD2):c.683-6C>T rs757160421 0.00021
NM_006440.5(TXNRD2):c.1137G>C (p.Val379=) rs184640901 0.00020
NM_006440.5(TXNRD2):c.173-19del rs770032943 0.00020
NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys) rs200942544 0.00019
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met) rs188258380 0.00019
NM_006440.5(TXNRD2):c.585C>G (p.Pro195=) rs201760306 0.00018
NM_006440.5(TXNRD2):c.949+10C>T rs563775080 0.00018
NM_006440.5(TXNRD2):c.1155G>C (p.Gly385=) rs370957634 0.00016
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_006440.5(TXNRD2):c.682+15C>T rs201450101 0.00016
NM_006440.5(TXNRD2):c.834C>G (p.Gly278=) rs371075332 0.00015
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_006440.5(TXNRD2):c.1276-15G>A rs374202570 0.00014
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile) rs201658653 0.00014
NM_006440.5(TXNRD2):c.1182+20G>A rs369759249 0.00013
NM_006440.5(TXNRD2):c.1475G>A (p.Arg492Gln) rs368561764 0.00013
NM_006440.5(TXNRD2):c.199G>A (p.Val67Met) rs372803804 0.00013
NM_006440.5(TXNRD2):c.821G>A (p.Arg274Gln) rs374364917 0.00013
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn) rs201531690 0.00012
NM_006440.5(TXNRD2):c.1086+16C>T rs372709644 0.00011
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn) rs369142382 0.00011
NM_006440.5(TXNRD2):c.543C>T (p.Ala181=) rs367754522 0.00011
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) rs373979810 0.00010
NM_006440.5(TXNRD2):c.135C>T (p.Val45=) rs752213778 0.00009
NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser) rs756196216 0.00009
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_006440.5(TXNRD2):c.1224G>C (p.Val408=) rs375650172 0.00008
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met) rs372446673 0.00007
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr) rs752863555 0.00007
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys) rs199765650 0.00007
NM_006440.5(TXNRD2):c.949+11G>A rs772807846 0.00007
NM_006440.5(TXNRD2):c.104-19C>A rs531374621 0.00006
NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln) rs199734322 0.00006
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly) rs371547623 0.00006
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr) rs377598025 0.00006
NM_006440.5(TXNRD2):c.1158C>T (p.Ser386=) rs558954630 0.00006
NM_006440.5(TXNRD2):c.1176C>T (p.Tyr392=) rs544242322 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg) rs774708598 0.00006
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=) rs767236339 0.00006
NM_006440.5(TXNRD2):c.504C>T (p.Cys168=) rs752481782 0.00006
NM_006440.5(TXNRD2):c.714C>T (p.Thr238=) rs202225486 0.00006
NM_006440.5(TXNRD2):c.774+11A>G rs779646678 0.00006
NM_006440.5(TXNRD2):c.820C>T (p.Arg274Trp) rs571571452 0.00006
NM_006440.5(TXNRD2):c.104-12C>G rs142727613 0.00005
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg) rs565329400 0.00005
NM_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_006440.5(TXNRD2):c.138C>T (p.Gly46=) rs778309862 0.00005
NM_006440.5(TXNRD2):c.1413C>T (p.Gly471=) rs753841469 0.00005
NM_006440.5(TXNRD2):c.1474C>T (p.Arg492Trp) rs146133764 0.00005
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys) rs763888077 0.00005
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00005
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu) rs201177571 0.00005
NM_006440.5(TXNRD2):c.917C>T (p.Thr306Met) rs371153395 0.00005
NM_006440.5(TXNRD2):c.949+13C>T rs540907669 0.00005
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile) rs780014083 0.00004
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr) rs1388529732 0.00004
NM_006440.5(TXNRD2):c.1149C>T (p.Phe383=) rs768999643 0.00004
NM_006440.5(TXNRD2):c.1182+19C>T rs377040175 0.00004
NM_006440.5(TXNRD2):c.1305G>A (p.Glu435=) rs919971767 0.00004
NM_006440.5(TXNRD2):c.1368C>T (p.Pro456=) rs1388056453 0.00004
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser) rs757704344 0.00004
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala) rs553844427 0.00004
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro) rs756559860 0.00004
NM_006440.5(TXNRD2):c.1445+13G>T rs938029725 0.00004
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp) rs759613137 0.00004
NM_006440.5(TXNRD2):c.373T>C (p.Trp125Arg) rs373703741 0.00004
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys) rs1259706318 0.00004
NM_006440.5(TXNRD2):c.449+4C>T rs755751835 0.00004
NM_006440.5(TXNRD2):c.507C>T (p.Gly169=) rs374068797 0.00004
NM_006440.5(TXNRD2):c.1008C>T (p.Pro336=) rs746370708 0.00003
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln) rs201349663 0.00003
NM_006440.5(TXNRD2):c.1066G>A (p.Ala356Thr) rs576244023 0.00003
NM_006440.5(TXNRD2):c.1311G>A (p.Thr437=) rs200312334 0.00003
NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro) rs776104767 0.00003
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00003
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn) rs371797598 0.00003
NM_006440.5(TXNRD2):c.1464G>A (p.Ala488=) rs372816982 0.00003
NM_006440.5(TXNRD2):c.1497A>G (p.Thr499=) rs969582646 0.00003
NM_006440.5(TXNRD2):c.1522C>T (p.Arg508Cys) rs368176907 0.00003
NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His) rs375708279 0.00003
NM_006440.5(TXNRD2):c.1554G>A (p.Thr518=) rs144497090 0.00003
NM_006440.5(TXNRD2):c.211G>A (p.Val71Met) rs867369272 0.00003
NM_006440.5(TXNRD2):c.258C>T (p.Cys86=) rs746744099 0.00003
NM_006440.5(TXNRD2):c.360C>T (p.Pro120=) rs780233789 0.00003
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu) rs745896340 0.00003
NM_006440.5(TXNRD2):c.449+17C>T rs370505160 0.00003
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe) rs886509891 0.00003
NM_006440.5(TXNRD2):c.489C>T (p.Asp163=) rs751116028 0.00003
NM_006440.5(TXNRD2):c.572G>A (p.Arg191Gln) rs730880248 0.00003
NM_006440.5(TXNRD2):c.591+17C>T rs561134669 0.00003
NM_006440.5(TXNRD2):c.591+18A>G rs370913885 0.00003
NM_006440.5(TXNRD2):c.758T>C (p.Leu253Pro) rs773449032 0.00003
NM_006440.5(TXNRD2):c.771C>T (p.Asp257=) rs536545192 0.00003
NM_006440.5(TXNRD2):c.801C>T (p.His267=) rs550803593 0.00003
NM_006440.5(TXNRD2):c.846G>A (p.Ser282=) rs373979565 0.00003
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp) rs200981451 0.00003
NM_006440.5(TXNRD2):c.104-3C>G rs746380381 0.00002
NM_006440.5(TXNRD2):c.1086+11C>T rs369332144 0.00002
NM_006440.5(TXNRD2):c.1087-8T>C rs1000041198 0.00002
NM_006440.5(TXNRD2):c.1090C>T (p.Arg364Trp) rs772667712 0.00002
NM_006440.5(TXNRD2):c.1122C>T (p.Ala374=) rs780948248 0.00002
NM_006440.5(TXNRD2):c.1123G>A (p.Gly375Arg) rs757239766 0.00002
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp) rs1044687486 0.00002
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu) rs376808071 0.00002
NM_006440.5(TXNRD2):c.1257C>T (p.His419=) rs368690320 0.00002
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) rs200162480 0.00002
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) rs759374389 0.00002
NM_006440.5(TXNRD2):c.1348-9G>A rs774694967 0.00002
NM_006440.5(TXNRD2):c.1398T>C (p.Leu466=) rs781691483 0.00002
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile) rs375338503 0.00002
NM_006440.5(TXNRD2):c.1511T>C (p.Val504Ala) rs769258408 0.00002
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys) rs201943415 0.00002
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys) rs779740988 0.00002
NM_006440.5(TXNRD2):c.230-8C>T rs750889743 0.00002
NM_006440.5(TXNRD2):c.230-9A>G rs368172149 0.00002
NM_006440.5(TXNRD2):c.249C>T (p.Gly83=) rs375701461 0.00002
NM_006440.5(TXNRD2):c.490G>A (p.Glu164Lys) rs371149646 0.00002
NM_006440.5(TXNRD2):c.529-5C>T rs766288973 0.00002
NM_006440.5(TXNRD2):c.544G>A (p.Asp182Asn) rs752857898 0.00002
NM_006440.5(TXNRD2):c.571C>T (p.Arg191Trp) rs751123675 0.00002
NM_006440.5(TXNRD2):c.682+6C>A rs767490146 0.00002
NM_006440.5(TXNRD2):c.868G>A (p.Gly290Ser) rs777357363 0.00002
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) rs543290126 0.00002
NM_006440.5(TXNRD2):c.934G>A (p.Val312Ile) rs577533142 0.00002
NM_006440.5(TXNRD2):c.950-19C>T rs541350051 0.00002
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser) rs765171416 0.00002
NM_006440.5(TXNRD2):c.1009G>A (p.Asp337Asn) rs781778102 0.00001
NM_006440.5(TXNRD2):c.1032C>A (p.Asp344Glu) rs759106464 0.00001
NM_006440.5(TXNRD2):c.104-1G>A rs781473800 0.00001
NM_006440.5(TXNRD2):c.1065C>T (p.Tyr355=) rs377072227 0.00001
NM_006440.5(TXNRD2):c.1070T>C (p.Ile357Thr) rs375498636 0.00001
NM_006440.5(TXNRD2):c.1078G>A (p.Val360Met) rs747350610 0.00001
NM_006440.5(TXNRD2):c.1086+4C>T rs753380240 0.00001
NM_006440.5(TXNRD2):c.1087-2A>G rs1289412583 0.00001
NM_006440.5(TXNRD2):c.1113G>A (p.Ala371=) rs745421312 0.00001
NM_006440.5(TXNRD2):c.1131C>T (p.Leu377=) rs773930137 0.00001
NM_006440.5(TXNRD2):c.113G>A (p.Arg38Gln) rs777384922 0.00001
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln) rs774909194 0.00001
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=) rs766934707 0.00001
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg) rs528059873 0.00001
NM_006440.5(TXNRD2):c.1156T>C (p.Ser386Pro) rs960610186 0.00001
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg) rs758236709 0.00001
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp) rs764621618 0.00001
NM_006440.5(TXNRD2):c.1194C>T (p.Thr398=) rs372301925 0.00001
NM_006440.5(TXNRD2):c.1214A>G (p.Tyr405Cys) rs934895346 0.00001
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys) rs781432469 0.00001
NM_006440.5(TXNRD2):c.1252C>T (p.Arg418Cys) rs771161029 0.00001
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His) rs1388670551 0.00001
NM_006440.5(TXNRD2):c.1276-10C>T rs755455290 0.00001
NM_006440.5(TXNRD2):c.1276-6C>T rs780563496 0.00001
NM_006440.5(TXNRD2):c.1284C>T (p.His428=) rs1301499289 0.00001
NM_006440.5(TXNRD2):c.1285G>A (p.Ala429Thr) rs767323099 0.00001
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro) rs376463546 0.00001
NM_006440.5(TXNRD2):c.1310C>T (p.Thr437Met) rs1410697719 0.00001
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys) rs749643976 0.00001
NM_006440.5(TXNRD2):c.1347+13G>A rs1433962762 0.00001
NM_006440.5(TXNRD2):c.1348-13G>A rs1204795034 0.00001
NM_006440.5(TXNRD2):c.1375C>T (p.Leu459=) rs2145927277 0.00001
NM_006440.5(TXNRD2):c.1383G>A (p.Leu461=) rs1242700354 0.00001
NM_006440.5(TXNRD2):c.1401C>T (p.Gly467=) rs886038873 0.00001
NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp) rs754916024 0.00001
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys) rs766076027 0.00001
NM_006440.5(TXNRD2):c.1417G>A (p.Val473Ile) rs760570314 0.00001
NM_006440.5(TXNRD2):c.1422T>G (p.Thr474=) rs2145927131 0.00001
NM_006440.5(TXNRD2):c.1445+10G>A rs770361302 0.00001
NM_006440.5(TXNRD2):c.1445+9C>T rs533782247 0.00001
NM_006440.5(TXNRD2):c.1446-14T>C rs778583264 0.00001
NM_006440.5(TXNRD2):c.1446-8A>G rs748858662 0.00001
NM_006440.5(TXNRD2):c.1449T>C (p.Cys483=) rs1194743410 0.00001
NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu) rs1409074647 0.00001
NM_006440.5(TXNRD2):c.1453G>T (p.Ala485Ser) rs960962542 0.00001
NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys) rs367711380 0.00001
NM_006440.5(TXNRD2):c.1463C>T (p.Ala488Val) rs752947034 0.00001
NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter) rs759650391 0.00001
NM_006440.5(TXNRD2):c.1479C>T (p.Thr493=) rs767844402 0.00001
NM_006440.5(TXNRD2):c.1480G>A (p.Val494Met) rs762203465 0.00001
NM_006440.5(TXNRD2):c.1515C>T (p.Val505=) rs1036191651 0.00001
NM_006440.5(TXNRD2):c.156G>A (p.Leu52=) rs939642675 0.00001
NM_006440.5(TXNRD2):c.1575A>C (p.Ter525Tyr) rs890339708 0.00001
NM_006440.5(TXNRD2):c.165C>T (p.Ala55=) rs966574737 0.00001
NM_006440.5(TXNRD2):c.172+11T>G rs1425620265 0.00001
NM_006440.5(TXNRD2):c.172+12G>A rs775588476 0.00001
NM_006440.5(TXNRD2):c.172+14A>G rs765242435 0.00001
NM_006440.5(TXNRD2):c.172+20C>A rs760016716 0.00001
NM_006440.5(TXNRD2):c.172+3A>G rs923193498 0.00001
NM_006440.5(TXNRD2):c.172G>A (p.Ala58Thr) rs764378793 0.00001
NM_006440.5(TXNRD2):c.198C>T (p.Ala66=) rs1009388190 0.00001
NM_006440.5(TXNRD2):c.205G>T (p.Asp69Tyr) rs768403549 0.00001
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu) rs888739263 0.00001
NM_006440.5(TXNRD2):c.230-2A>G rs1354650556 0.00001
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp) rs762060966 0.00001
NM_006440.5(TXNRD2):c.247G>A (p.Gly83Ser) rs202091972 0.00001
NM_006440.5(TXNRD2):c.264C>T (p.Asn88=) rs575321083 0.00001
NM_006440.5(TXNRD2):c.300G>A (p.Ala100=) rs1004841892 0.00001
NM_006440.5(TXNRD2):c.309G>A (p.Leu103=) rs762625233 0.00001
NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys) rs905391308 0.00001
NM_006440.5(TXNRD2):c.361G>A (p.Val121Met) rs756368327 0.00001
NM_006440.5(TXNRD2):c.366G>A (p.Pro122=) rs3747068 0.00001
NM_006440.5(TXNRD2):c.36A>G (p.Gly12=) rs1460726198 0.00001
NM_006440.5(TXNRD2):c.380A>G (p.Lys127Arg) rs753524446 0.00001
NM_006440.5(TXNRD2):c.395T>C (p.Val132Ala) rs1449070418 0.00001
NM_006440.5(TXNRD2):c.406G>A (p.Val136Met) rs749100112 0.00001
NM_006440.5(TXNRD2):c.413C>T (p.Ser138Phe) rs776896078 0.00001
NM_006440.5(TXNRD2):c.417del (p.Asn140fs) rs780054798 0.00001
NM_006440.5(TXNRD2):c.430C>T (p.Arg144Cys) rs749157073 0.00001
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu) rs748674090 0.00001
NM_006440.5(TXNRD2):c.449+10C>G rs552910679 0.00001
NM_006440.5(TXNRD2):c.449+11T>C rs767028260 0.00001
NM_006440.5(TXNRD2):c.449+13T>C rs374143850 0.00001
NM_006440.5(TXNRD2):c.449+14C>G rs1219704005 0.00001
NM_006440.5(TXNRD2):c.449+7_449+12del rs756254595 0.00001
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys) rs755356370 0.00001
NM_006440.5(TXNRD2):c.450-1G>A rs755703700 0.00001
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met) rs553337931 0.00001
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile) rs574389555 0.00001
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_006440.5(TXNRD2):c.532C>T (p.Leu178=) rs1416081507 0.00001
NM_006440.5(TXNRD2):c.534G>T (p.Leu178=) rs371918416 0.00001
NM_006440.5(TXNRD2):c.553A>G (p.Ile185Val) rs1051972970 0.00001
NM_006440.5(TXNRD2):c.575C>T (p.Pro192Leu) rs747572047 0.00001
NM_006440.5(TXNRD2):c.587C>T (p.Thr196Met) rs531899091 0.00001
NM_006440.5(TXNRD2):c.588G>A (p.Thr196=) rs377699868 0.00001
NM_006440.5(TXNRD2):c.589C>G (p.His197Asp) rs762695606 0.00001
NM_006440.5(TXNRD2):c.591+16G>A rs754333289 0.00001
NM_006440.5(TXNRD2):c.591C>T (p.His197=) rs543644944 0.00001
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp) rs112854076 0.00001
NM_006440.5(TXNRD2):c.631A>G (p.Ile211Val) rs1395904348 0.00001
NM_006440.5(TXNRD2):c.662+1G>A rs1317400468 0.00001
NM_006440.5(TXNRD2):c.662+6G>A rs887858049 0.00001
NM_006440.5(TXNRD2):c.662+9T>G rs1209514919 0.00001
NM_006440.5(TXNRD2):c.663-13G>C rs1162356991 0.00001
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe) rs754609974 0.00001
NM_006440.5(TXNRD2):c.672C>T (p.Val224=) rs768078454 0.00001
NM_006440.5(TXNRD2):c.677C>T (p.Ala226Val) rs1374469315 0.00001
NM_006440.5(TXNRD2):c.682+5C>G rs1470456087 0.00001
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg) rs978493213 0.00001
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met) rs1246351128 0.00001
NM_006440.5(TXNRD2):c.737T>C (p.Ile246Thr) rs1019958523 0.00001
NM_006440.5(TXNRD2):c.746G>A (p.Arg249His) rs760799626 0.00001
NM_006440.5(TXNRD2):c.774+16C>G rs938145163 0.00001
NM_006440.5(TXNRD2):c.775-8C>T rs1452168947 0.00001
NM_006440.5(TXNRD2):c.775C>A (p.Gln259Lys) rs1939470316 0.00001
NM_006440.5(TXNRD2):c.789G>A (p.Met263Ile) rs1939469611 0.00001
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg) rs1444083785 0.00001
NM_006440.5(TXNRD2):c.822G>A (p.Arg274=) rs1336405554 0.00001
NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu) rs368200536 0.00001
NM_006440.5(TXNRD2):c.848G>A (p.Arg283Gln) rs531699366 0.00001
NM_006440.5(TXNRD2):c.849G>T (p.Arg283=) rs559964753 0.00001
NM_006440.5(TXNRD2):c.860T>G (p.Leu287Arg) rs989125451 0.00001
NM_006440.5(TXNRD2):c.861C>T (p.Leu287=) rs746457439 0.00001
NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn) rs779054925 0.00001
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser) rs781228620 0.00001
NM_006440.5(TXNRD2):c.905G>A (p.Gly302Asp) rs757519340 0.00001
NM_006440.5(TXNRD2):c.918G>A (p.Thr306=) rs763086193 0.00001
NM_006440.5(TXNRD2):c.949+14G>A rs373223971 0.00001
NM_006440.5(TXNRD2):c.949+3A>G rs770435568 0.00001
NM_006440.5(TXNRD2):c.965C>A (p.Thr322Asn) rs752178604 0.00001
NM_006440.5(TXNRD2):c.967A>G (p.Arg323Gly) rs1265487701 0.00001
NM_006440.5(TXNRD2):c.987G>A (p.Lys329=) rs1454322676 0.00001
NM_006440.5(TXNRD2):c.993G>C (p.Gly331=) rs774604998 0.00001
NC_000022.10:g.(?_19864628)_(19883124_?)del
NC_000022.10:g.(?_19882910)_(19886611_?)del
NC_000022.10:g.(?_19885542)_(19886611_?)del
NC_000022.10:g.(?_19903225)_(19906419_?)del
NC_000022.11:g.(?_19911357)_(19911467_?)del
NC_000022.11:g.(?_19911367)_(19911457_?)del
NM_006440.5(TXNRD2):c.1002T>C (p.Thr334=) rs1938875775
NM_006440.5(TXNRD2):c.1005C>A (p.Ser335Arg)
NM_006440.5(TXNRD2):c.1011C>A (p.Asp337Glu) rs1569073275
NM_006440.5(TXNRD2):c.1029G>A (p.Val343=) rs758006460
NM_006440.5(TXNRD2):c.1032C>T (p.Asp344=) rs759106464
NM_006440.5(TXNRD2):c.104-10del rs1941342990
NM_006440.5(TXNRD2):c.104-14A>T rs2517422075
NM_006440.5(TXNRD2):c.1054C>G (p.Pro352Ala)
NM_006440.5(TXNRD2):c.1058A>C (p.His353Pro) rs1307604976
NM_006440.5(TXNRD2):c.1058A>G (p.His353Arg) rs1307604976
NM_006440.5(TXNRD2):c.1059C>T (p.His353=) rs2145939709
NM_006440.5(TXNRD2):c.1078G>C (p.Val360Leu) rs747350610
NM_006440.5(TXNRD2):c.1086+11C>A rs369332144
NM_006440.5(TXNRD2):c.1086+12_1086+13delinsTC rs2145939546
NM_006440.5(TXNRD2):c.1086+19_1086+20insGGCA rs918796709
NM_006440.5(TXNRD2):c.1087-14dup rs2517276796
NM_006440.5(TXNRD2):c.1087-15T>C rs2517276801
NM_006440.5(TXNRD2):c.1087-16del rs34827823
NM_006440.5(TXNRD2):c.1087-16dup rs34827823
NM_006440.5(TXNRD2):c.1087-4C>T rs942304915
NM_006440.5(TXNRD2):c.1091G>T (p.Arg364Leu) rs199734322
NM_006440.5(TXNRD2):c.1106C>A (p.Pro369His) rs1489194482
NM_006440.5(TXNRD2):c.1107C>A (p.Pro369=) rs371533709
NM_006440.5(TXNRD2):c.1107C>T (p.Pro369=) rs371533709
NM_006440.5(TXNRD2):c.1109_1110delinsCG (p.Ile370Thr) rs2145933207
NM_006440.5(TXNRD2):c.1117A>G (p.Met373Val) rs2145933186
NM_006440.5(TXNRD2):c.1118T>C (p.Met373Thr) rs1938732295
NM_006440.5(TXNRD2):c.1122C>G (p.Ala374=) rs780948248
NM_006440.5(TXNRD2):c.1123G>C (p.Gly375Arg) rs757239766
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val) rs1294156190
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) rs192869629
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg) rs192869629
NM_006440.5(TXNRD2):c.1154G>C (p.Gly385Ala) rs1938727490
NM_006440.5(TXNRD2):c.1173C>T (p.Asp391=) rs1220349719
NM_006440.5(TXNRD2):c.1178A>G (p.Asp393Gly) rs2145932871
NM_006440.5(TXNRD2):c.1182+20G>T
NM_006440.5(TXNRD2):c.1182T>C (p.Asn394=) rs1938724361
NM_006440.5(TXNRD2):c.1183-10_1183-7del rs1569070709
NM_006440.5(TXNRD2):c.1183-4T>C rs776316388
NM_006440.5(TXNRD2):c.1188C>T (p.Pro396=) rs2517275058
NM_006440.5(TXNRD2):c.1191G>A (p.Thr397=) rs1292463748
NM_006440.5(TXNRD2):c.1216G>A (p.Gly406Ser)
NM_006440.5(TXNRD2):c.1221T>C (p.Cys407=)
NM_006440.5(TXNRD2):c.1254C>T (p.Arg418=) rs1188379074
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg) rs2517274829
NM_006440.5(TXNRD2):c.1266G>A (p.Glu422=) rs1569070557
NM_006440.5(TXNRD2):c.1266G>C (p.Glu422Asp) rs1569070557
NM_006440.5(TXNRD2):c.1275+6G>A rs112654486
NM_006440.5(TXNRD2):c.1276-11C>A rs370805689
NM_006440.5(TXNRD2):c.1276-16_1276-14del rs543441133
NM_006440.5(TXNRD2):c.1276-1G>A rs2145927925
NM_006440.5(TXNRD2):c.1280A>G (p.Tyr427Cys) rs1938608628
NM_006440.5(TXNRD2):c.1301T>C (p.Leu434Pro) rs2145927851
NM_006440.5(TXNRD2):c.1302G>A (p.Leu434=) rs2517269957
NM_006440.5(TXNRD2):c.1332C>A (p.Ser444=) rs1938606312
NM_006440.5(TXNRD2):c.1334A>G (p.Gln445Arg) rs1938606140
NM_006440.5(TXNRD2):c.136G>A (p.Gly46Ser) rs1443401495
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.1371A>G (p.Pro457=) rs2517269192
NM_006440.5(TXNRD2):c.1378G>A (p.Val460Met) rs770442788
NM_006440.5(TXNRD2):c.1381C>T (p.Leu461=) rs2145927256
NM_006440.5(TXNRD2):c.1389G>C (p.Leu463=)
NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys) rs200063300
NM_006440.5(TXNRD2):c.1407C>G (p.Asn469Lys) rs200063300
NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=) rs200063300
NM_006440.5(TXNRD2):c.1435C>T (p.Leu479=) rs2145927114
NM_006440.5(TXNRD2):c.1445+18C>G rs41431147
NM_006440.5(TXNRD2):c.1445+5G>C rs918021854
NM_006440.5(TXNRD2):c.1445+7C>A rs992536525
NM_006440.5(TXNRD2):c.1445A>C (p.Lys482Thr) rs763072970
NM_006440.5(TXNRD2):c.1446-15A>G rs747783774
NM_006440.5(TXNRD2):c.1446-7T>C rs907571604
NM_006440.5(TXNRD2):c.1460A>C (p.Tyr487Ser) rs367711380
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val) rs1317064619
NM_006440.5(TXNRD2):c.1484G>T (p.Gly495Val) rs773949487
NM_006440.5(TXNRD2):c.1492C>T (p.Pro498Ser) rs1569068105
NM_006440.5(TXNRD2):c.1498T>C (p.Cys500Arg) rs374967343
NM_006440.5(TXNRD2):c.1499_1500delinsAA (p.Cys500Ter) rs2517266707
NM_006440.5(TXNRD2):c.1514T>C (p.Val505Ala) rs759613137
NM_006440.5(TXNRD2):c.1522C>G (p.Arg508Gly) rs368176907
NM_006440.5(TXNRD2):c.1546G>C (p.Asp516His) rs1221993025
NM_006440.5(TXNRD2):c.1553del (p.Thr518fs) rs2517266508
NM_006440.5(TXNRD2):c.1560A>C (p.Thr520=) rs763666305
NM_006440.5(TXNRD2):c.1572G>A (p.Gly524=) rs2517266440
NM_006440.5(TXNRD2):c.1573T>C (p.Ter525Gln) rs1180288543
NM_006440.5(TXNRD2):c.172+20C>T rs760016716
NM_006440.5(TXNRD2):c.173-14C>T rs780115745
NM_006440.5(TXNRD2):c.173-7C>A rs1303945518
NM_006440.5(TXNRD2):c.175G>C (p.Ala59Pro) rs752863555
NM_006440.5(TXNRD2):c.177_178delinsTT (p.Gln60Ter) rs1940808459
NM_006440.5(TXNRD2):c.187A>G (p.Arg63Gly) rs2146049658
NM_006440.5(TXNRD2):c.229+13C>G rs1197693980
NM_006440.5(TXNRD2):c.229+19G>A
NM_006440.5(TXNRD2):c.229+6C>A
NM_006440.5(TXNRD2):c.229+6del
NM_006440.5(TXNRD2):c.229+7A>T rs2517393339
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu) rs373979810
NM_006440.5(TXNRD2):c.237G>A (p.Arg79=)
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg) rs762714876
NM_006440.5(TXNRD2):c.255C>T (p.Thr85=) rs770945312
NM_006440.5(TXNRD2):c.265G>A (p.Val89Met)
NM_006440.5(TXNRD2):c.279C>T (p.Pro93=) rs1940765606
NM_006440.5(TXNRD2):c.284A>G (p.Lys95Arg) rs897456386
NM_006440.5(TXNRD2):c.285G>A (p.Lys95=)
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu) rs767878935
NM_006440.5(TXNRD2):c.299C>T (p.Ala100Val) rs767878935
NM_006440.5(TXNRD2):c.312A>T (p.Gly104=)
NM_006440.5(TXNRD2):c.313G>A (p.Gly105Ser) rs1429132177
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser) rs758941896
NM_006440.5(TXNRD2):c.335A>T (p.Asn112Ile) rs758941896
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) rs869025560
NM_006440.5(TXNRD2):c.350T>C (p.Val117Ala) rs770727890
NM_006440.5(TXNRD2):c.358C>T (p.Pro120Ser)
NM_006440.5(TXNRD2):c.364C>A (p.Pro122Thr) rs1432720365
NM_006440.5(TXNRD2):c.364C>T (p.Pro122Ser) rs1432720365
NM_006440.5(TXNRD2):c.366G>T (p.Pro122=) rs3747068
NM_006440.5(TXNRD2):c.374+16C>A rs141500917
NM_006440.5(TXNRD2):c.374+16C>T rs141500917
NM_006440.5(TXNRD2):c.374+20G>T rs1375808016
NM_006440.5(TXNRD2):c.375-10A>T rs2517388335
NM_006440.5(TXNRD2):c.375-12G>A
NM_006440.5(TXNRD2):c.375-13C>T rs375843760
NM_006440.5(TXNRD2):c.375-14T>G rs753065216
NM_006440.5(TXNRD2):c.375-7T>G rs1060501405
NM_006440.5(TXNRD2):c.382A>T (p.Met128Leu) rs1940724639
NM_006440.5(TXNRD2):c.385G>A (p.Ala129Thr) rs1940724124
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly) rs368359642
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val) rs368359642
NM_006440.5(TXNRD2):c.403del (p.His135fs) rs1940723314
NM_006440.5(TXNRD2):c.409A>G (p.Lys137Glu)
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_006440.5(TXNRD2):c.428A>G (p.His143Arg) rs778024620
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His) rs748674090
NM_006440.5(TXNRD2):c.431G>C (p.Arg144Pro) rs748674090
NM_006440.5(TXNRD2):c.43T>A (p.Phe15Ile) rs1941728679
NM_006440.5(TXNRD2):c.449+2T>G rs777806288
NM_006440.5(TXNRD2):c.449+3A>G rs754205571
NM_006440.5(TXNRD2):c.450-13C>G
NM_006440.5(TXNRD2):c.450-14T>A
NM_006440.5(TXNRD2):c.450-15_450-14del rs767787404
NM_006440.5(TXNRD2):c.450-2A>G rs2517381926
NM_006440.5(TXNRD2):c.462C>G (p.Tyr154Ter) rs182857388
NM_006440.5(TXNRD2):c.479G>A (p.Ser160Asn) rs1255947483
NM_006440.5(TXNRD2):c.486T>C (p.Val162=) rs1307977717
NM_006440.5(TXNRD2):c.528+2T>C rs775856560
NM_006440.5(TXNRD2):c.529-3_529-2del rs2517379785
NM_006440.5(TXNRD2):c.529-8C>A rs754998172
NM_006440.5(TXNRD2):c.529-8C>T rs754998172
NM_006440.5(TXNRD2):c.529-9dup rs1167544136
NM_006440.5(TXNRD2):c.540A>G (p.Ser180=)
NM_006440.5(TXNRD2):c.564T>C (p.Thr188=) rs2517379564
NM_006440.5(TXNRD2):c.591+1G>A rs200610775
NM_006440.5(TXNRD2):c.591+4_591+5del rs764491564
NM_006440.5(TXNRD2):c.591+7G>T rs1166950452
NM_006440.5(TXNRD2):c.592-2_602del rs1346246087
NM_006440.5(TXNRD2):c.593T>C (p.Ile198Thr) rs2517370188
NM_006440.5(TXNRD2):c.602C>G (p.Ala201Gly)
NM_006440.5(TXNRD2):c.650C>T (p.Ser217Phe) rs201913959
NM_006440.5(TXNRD2):c.655G>C (p.Gly219Arg) rs1940404247
NM_006440.5(TXNRD2):c.662+10G>T rs2146024963
NM_006440.5(TXNRD2):c.662+14G>T rs9606176
NM_006440.5(TXNRD2):c.662+16G>A
NM_006440.5(TXNRD2):c.663-10T>C rs1383048604
NM_006440.5(TXNRD2):c.663-3C>T rs778588418
NM_006440.5(TXNRD2):c.663-5A>G rs2517327215
NM_006440.5(TXNRD2):c.663-7C>T rs753045205
NM_006440.5(TXNRD2):c.673G>A (p.Gly225Arg)
NM_006440.5(TXNRD2):c.682+13dup rs758979737
NM_006440.5(TXNRD2):c.682+16G>A rs377147143
NM_006440.5(TXNRD2):c.682+9T>G rs2145979515
NM_006440.5(TXNRD2):c.683-16A>C rs2145976926
NM_006440.5(TXNRD2):c.692T>C (p.Leu231Pro) rs866667235
NM_006440.5(TXNRD2):c.702T>C (p.Ala234=) rs1165554583
NM_006440.5(TXNRD2):c.704G>C (p.Gly235Ala) rs1259831281
NM_006440.5(TXNRD2):c.722G>A (p.Gly241Glu) rs2517322899
NM_006440.5(TXNRD2):c.724C>T (p.Leu242=) rs1939596501
NM_006440.5(TXNRD2):c.740T>A (p.Met247Lys)
NM_006440.5(TXNRD2):c.751A>G (p.Ile251Val) rs966662412
NM_006440.5(TXNRD2):c.754C>G (p.Pro252Ala) rs1019205992
NM_006440.5(TXNRD2):c.754C>T (p.Pro252Ser)
NM_006440.5(TXNRD2):c.756C>T (p.Pro252=) rs1371426999
NM_006440.5(TXNRD2):c.761G>T (p.Arg254Leu)
NM_006440.5(TXNRD2):c.762C>A (p.Arg254=) rs180876642
NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg) rs76079250
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn) rs1479345231
NM_006440.5(TXNRD2):c.774+12G>A
NM_006440.5(TXNRD2):c.774+16C>T rs938145163
NM_006440.5(TXNRD2):c.774+6G>T rs1233207996
NM_006440.5(TXNRD2):c.775-1G>A rs2145970512
NM_006440.5(TXNRD2):c.783C>T (p.Ser261=) rs2145970463
NM_006440.5(TXNRD2):c.819C>T (p.Thr273=) rs2145970318
NM_006440.5(TXNRD2):c.834C>A (p.Gly278=) rs371075332
NM_006440.5(TXNRD2):c.834C>T (p.Gly278=) rs371075332
NM_006440.5(TXNRD2):c.839C>T (p.Ala280Val) rs2145970224
NM_006440.5(TXNRD2):c.840C>A (p.Ala280=) rs1416399071
NM_006440.5(TXNRD2):c.858G>A (p.Arg286=) rs201503021
NM_006440.5(TXNRD2):c.870C>T (p.Gly290=) rs1939463020
NM_006440.5(TXNRD2):c.893A>G (p.Asp298Gly)
NM_006440.5(TXNRD2):c.895A>C (p.Ser299Arg) rs5992495
NM_006440.5(TXNRD2):c.895A>T (p.Ser299Cys) rs5992495
NM_006440.5(TXNRD2):c.903C>A (p.Thr301=) rs35695986
NM_006440.5(TXNRD2):c.903C>T (p.Thr301=) rs35695986
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg) rs371153395
NM_006440.5(TXNRD2):c.939G>A (p.Leu313=) rs1060504228
NM_006440.5(TXNRD2):c.949+10C>A rs563775080
NM_006440.5(TXNRD2):c.949+14G>T rs373223971
NM_006440.5(TXNRD2):c.949_949+21del
NM_006440.5(TXNRD2):c.950-13C>G
NM_006440.5(TXNRD2):c.954A>G (p.Arg318=) rs2517283042
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile) rs2517283039
NM_006440.5(TXNRD2):c.957C>T (p.Val319=) rs371700934
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser) rs1938879786
NM_006440.5(TXNRD2):c.965C>G (p.Thr322Ser) rs752178604
NM_006440.5(TXNRD2):c.974T>C (p.Leu325Pro) rs759476139

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