ClinVar Miner

List of variants reported as uncertain significance for Aortic valve disease 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 482
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971 0.00065
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val) rs145093897 0.00038
NM_005585.5(SMAD6):c.761C>A (p.Ala254Asp) rs529866697 0.00030
NM_005585.5(SMAD6):c.173C>G (p.Ser58Cys) rs756752655 0.00023
NM_005585.5(SMAD6):c.328C>T (p.Pro110Ser) rs773431944 0.00023
NM_005585.5(SMAD6):c.431C>T (p.Pro144Leu) rs574652189 0.00018
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr) rs199531653 0.00016
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) rs199822239 0.00015
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg) rs990598927 0.00013
NM_005585.5(SMAD6):c.253C>T (p.Arg85Cys) rs1056072996 0.00012
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) rs748622672 0.00012
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met) rs146363463 0.00011
NM_005585.5(SMAD6):c.91G>A (p.Gly31Ser) rs770362322 0.00011
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 0.00011
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu) rs781686740 0.00010
NM_005585.5(SMAD6):c.610G>A (p.Gly204Ser) rs746951925 0.00010
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser) rs373836386 0.00008
NM_005585.5(SMAD6):c.939G>A (p.Pro313=) rs144403747 0.00008
NM_005585.5(SMAD6):c.439G>A (p.Gly147Arg) rs867644316 0.00007
NM_005585.5(SMAD6):c.856G>A (p.Asp286Asn) rs759918873 0.00007
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_005585.5(SMAD6):c.158G>A (p.Gly53Glu) rs955270050 0.00006
NM_005585.5(SMAD6):c.278T>C (p.Met93Thr) rs985309653 0.00006
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_005585.5(SMAD6):c.854G>A (p.Arg285His) rs201098141 0.00005
NM_181486.4(TBX5):c.1273C>A (p.His425Asn) rs755152246 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_005585.5(SMAD6):c.1276G>A (p.Val426Ile) rs376580255 0.00004
NM_005585.5(SMAD6):c.316G>A (p.Asp106Asn) rs981951560 0.00004
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln) rs946785791 0.00004
NM_005585.5(SMAD6):c.715G>A (p.Val239Met) rs768794005 0.00004
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala) rs1049275389 0.00004
NM_005585.5(SMAD6):c.853C>T (p.Arg285Cys) rs749741980 0.00004
NM_005585.5(SMAD6):c.859G>A (p.Glu287Lys) rs570279865 0.00004
NM_005585.5(SMAD6):c.938C>T (p.Pro313Leu) rs748388661 0.00004
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu) rs772926628 0.00003
NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg) rs1027280912 0.00003
NM_005585.5(SMAD6):c.698C>T (p.Pro233Leu) rs764453720 0.00003
NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser) rs781458675 0.00003
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) rs772844823 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) rs773308777 0.00002
NM_005585.5(SMAD6):c.1348C>T (p.Pro450Ser) rs369864879 0.00002
NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser) rs1239470869 0.00002
NM_005585.5(SMAD6):c.1489T>C (p.Ter497Gln) rs932383465 0.00002
NM_005585.5(SMAD6):c.235G>T (p.Gly79Cys) rs1318237027 0.00002
NM_005585.5(SMAD6):c.245G>A (p.Arg82Lys) rs1433506461 0.00002
NM_005585.5(SMAD6):c.257C>T (p.Ala86Val) rs1235267213 0.00002
NM_005585.5(SMAD6):c.80G>A (p.Ser27Asn) rs1448725205 0.00002
NM_005585.5(SMAD6):c.833C>T (p.Pro278Leu) rs372082813 0.00002
NM_005585.5(SMAD6):c.967C>T (p.Pro323Ser) rs1292983568 0.00002
NM_181486.4(TBX5):c.965A>G (p.His322Arg) rs759009256 0.00002
NM_005585.5(SMAD6):c.1006T>C (p.Tyr336His) rs1894552779 0.00001
NM_005585.5(SMAD6):c.1022C>T (p.Thr341Met) rs151259317 0.00001
NM_005585.5(SMAD6):c.1057G>A (p.Ala353Thr) rs1315294969 0.00001
NM_005585.5(SMAD6):c.1224C>G (p.His408Gln) rs1381118550 0.00001
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser) rs757027884 0.00001
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val) rs371348775 0.00001
NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala) rs758115595 0.00001
NM_005585.5(SMAD6):c.1346C>T (p.Ala449Val) rs1186486223 0.00001
NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter) rs1290060451 0.00001
NM_005585.5(SMAD6):c.1393C>T (p.Arg465Cys) rs761888345 0.00001
NM_005585.5(SMAD6):c.202C>T (p.Pro68Ser) rs1235974469 0.00001
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile) rs1595756752 0.00001
NM_005585.5(SMAD6):c.286C>T (p.Pro96Ser) rs1299231742 0.00001
NM_005585.5(SMAD6):c.299C>T (p.Ala100Val) rs1893029511 0.00001
NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter) rs1241989233 0.00001
NM_005585.5(SMAD6):c.374C>T (p.Thr125Ile) rs759468399 0.00001
NM_005585.5(SMAD6):c.388T>C (p.Ser130Pro) rs1893032616 0.00001
NM_005585.5(SMAD6):c.434T>C (p.Leu145Pro) rs1011931265 0.00001
NM_005585.5(SMAD6):c.469C>T (p.Arg157Trp) rs1239750015 0.00001
NM_005585.5(SMAD6):c.472A>G (p.Ser158Gly) rs1327929414 0.00001
NM_005585.5(SMAD6):c.484C>T (p.Arg162Cys) rs1337307419 0.00001
NM_005585.5(SMAD6):c.53T>G (p.Val18Gly) rs1221430921 0.00001
NM_005585.5(SMAD6):c.598G>A (p.Gly200Ser) rs1039327779 0.00001
NM_005585.5(SMAD6):c.667C>T (p.Gln223Ter) rs1064793003 0.00001
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter) rs759094719 0.00001
NM_005585.5(SMAD6):c.728C>T (p.Pro243Leu) rs946670694 0.00001
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro) rs1457962668 0.00001
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser) rs868114319 0.00001
NM_005585.5(SMAD6):c.851C>T (p.Pro284Leu) rs150101601 0.00001
NM_005585.5(SMAD6):c.872T>C (p.Leu291Pro) rs768096418 0.00001
NM_005585.5(SMAD6):c.883G>A (p.Asp295Asn) rs773338089 0.00001
NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys) rs1337502697 0.00001
NM_005585.5(SMAD6):c.921C>A (p.Asn307Lys) rs191287350 0.00001
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu) rs765204502 0.00001
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met) rs759766836 0.00001
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn) rs773568096 0.00001
NM_181486.4(TBX5):c.1322G>A (p.Gly441Asp) rs1203543672 0.00001
NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu) rs772790458 0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val) rs1243477560 0.00001
NM_181486.4(TBX5):c.322C>T (p.Pro108Ser) rs376621016 0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu) rs1479545982 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.950A>G (p.His317Arg) rs1869524074 0.00001
NC_000012.11:g.(?_114793337)_(114793931_?)dup
NC_000015.10:g.(?_66703239)_(67066380_?)del
NM_005585.5(SMAD6):c.1009T>A (p.Trp337Arg)
NM_005585.5(SMAD6):c.1014G>C (p.Glu338Asp) rs2140681200
NM_005585.5(SMAD6):c.1014G>T (p.Glu338Asp)
NM_005585.5(SMAD6):c.1016A>T (p.His339Leu)
NM_005585.5(SMAD6):c.1021A>G (p.Thr341Ala)
NM_005585.5(SMAD6):c.1025G>A (p.Arg342His)
NM_005585.5(SMAD6):c.1031G>T (p.Gly344Val) rs2140681275
NM_005585.5(SMAD6):c.1040del (p.Tyr347fs) rs1894554603
NM_005585.5(SMAD6):c.1041_1042del (p.Ala348fs) rs1894554671
NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)
NM_005585.5(SMAD6):c.104A>G (p.Glu35Gly)
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter) rs200493039
NM_005585.5(SMAD6):c.1051dup (p.Asp351fs)
NM_005585.5(SMAD6):c.1054C>A (p.Gln352Lys)
NM_005585.5(SMAD6):c.1055_1056insAT (p.Ala353fs) rs2140681355
NM_005585.5(SMAD6):c.1066A>G (p.Ile356Val)
NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr) rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His) rs1595804836
NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)
NM_005585.5(SMAD6):c.107A>C (p.Asp36Ala)
NM_005585.5(SMAD6):c.107A>G (p.Asp36Gly) rs763029325
NM_005585.5(SMAD6):c.107_128dup (p.Glu44fs)
NM_005585.5(SMAD6):c.1090del (p.Ser364fs) rs2140681457
NM_005585.5(SMAD6):c.1093G>T (p.Gly365Cys) rs1176080464
NM_005585.5(SMAD6):c.1102C>G (p.Leu368Val) rs1555440081
NM_005585.5(SMAD6):c.1103T>C (p.Leu368Pro)
NM_005585.5(SMAD6):c.1105G>A (p.Gly369Ser) rs1294873185
NM_005585.5(SMAD6):c.1118T>C (p.Leu373Pro) rs947145210
NM_005585.5(SMAD6):c.1127G>A (p.Arg376His)
NM_005585.5(SMAD6):c.1132G>A (p.Glu378Lys)
NM_005585.5(SMAD6):c.1141C>G (p.Arg381Gly)
NM_005585.5(SMAD6):c.1144C>T (p.Arg382Ter)
NM_005585.5(SMAD6):c.114C>G (p.Ser38Arg)
NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn) rs1555440093
NM_005585.5(SMAD6):c.1157A>G (p.Lys386Arg)
NM_005585.5(SMAD6):c.1158G>T (p.Lys386Asn)
NM_005585.5(SMAD6):c.1169G>T (p.Gly390Val)
NM_005585.5(SMAD6):c.1172T>A (p.Ile391Asn)
NM_005585.5(SMAD6):c.1175T>C (p.Leu392Pro) rs1265396527
NM_005585.5(SMAD6):c.1178T>C (p.Leu393Pro)
NM_005585.5(SMAD6):c.1182C>G (p.Ser394Arg) rs2140681716
NM_005585.5(SMAD6):c.1183A>T (p.Lys395Ter)
NM_005585.5(SMAD6):c.1195G>T (p.Gly399Cys)
NM_005585.5(SMAD6):c.1198G>C (p.Val400Leu)
NM_005585.5(SMAD6):c.1198G>T (p.Val400Leu)
NM_005585.5(SMAD6):c.1199T>A (p.Val400Glu) rs2140681753
NM_005585.5(SMAD6):c.1200_1391del (p.Trp401_Val464del)
NM_005585.5(SMAD6):c.1210A>G (p.Asn404Asp)
NM_005585.5(SMAD6):c.1211A>G (p.Asn404Ser)
NM_005585.5(SMAD6):c.1216G>A (p.Gly406Ser)
NM_005585.5(SMAD6):c.1216G>T (p.Gly406Cys) rs539298543
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr) rs900897541
NM_005585.5(SMAD6):c.125G>A (p.Arg42Gln) rs1270837180
NM_005585.5(SMAD6):c.1261G>A (p.Gly421Ser)
NM_005585.5(SMAD6):c.1273dup (p.Leu425fs) rs2140682011
NM_005585.5(SMAD6):c.1278C>A (p.Val426=) rs1375981080
NM_005585.5(SMAD6):c.1279G>T (p.Val427Leu)
NM_005585.5(SMAD6):c.127G>C (p.Ala43Pro)
NM_005585.5(SMAD6):c.1294C>T (p.Pro432Ser)
NM_005585.5(SMAD6):c.1295C>A (p.Pro432His)
NM_005585.5(SMAD6):c.1296dup (p.Gly433fs) rs751440011
NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)
NM_005585.5(SMAD6):c.1305_1306del (p.Ile436fs)
NM_005585.5(SMAD6):c.1321T>C (p.Phe441Leu) rs993487814
NM_005585.5(SMAD6):c.1323dup (p.Glu442fs) rs1894568566
NM_005585.5(SMAD6):c.1324G>A (p.Glu442Lys) rs778302338
NM_005585.5(SMAD6):c.1324G>C (p.Glu442Gln)
NM_005585.5(SMAD6):c.1324del (p.Glu442fs)
NM_005585.5(SMAD6):c.1328G>C (p.Arg443Pro) rs554980660
NM_005585.5(SMAD6):c.1347_1348del (p.Pro450fs)
NM_005585.5(SMAD6):c.1348C>A (p.Pro450Thr) rs369864879
NM_005585.5(SMAD6):c.1360G>A (p.Ala454Thr) rs754474911
NM_005585.5(SMAD6):c.1360G>C (p.Ala454Pro)
NM_005585.5(SMAD6):c.1363G>A (p.Ala455Thr)
NM_005585.5(SMAD6):c.1373C>G (p.Pro458Arg) rs746188996
NM_005585.5(SMAD6):c.1375T>A (p.Tyr459Asn)
NM_005585.5(SMAD6):c.1378del (p.Asp460fs)
NM_005585.5(SMAD6):c.137C>T (p.Ala46Val) rs2140580758
NM_005585.5(SMAD6):c.1383dup (p.Asn462fs)
NM_005585.5(SMAD6):c.1391T>C (p.Val464Ala)
NM_005585.5(SMAD6):c.1395_1404del (p.Ile466fs) rs2140682369
NM_005585.5(SMAD6):c.1396A>C (p.Ile466Leu)
NM_005585.5(SMAD6):c.1403T>C (p.Phe468Ser) rs1182669434
NM_005585.5(SMAD6):c.1405G>C (p.Ala469Pro) rs1416212959
NM_005585.5(SMAD6):c.1408A>C (p.Lys470Gln)
NM_005585.5(SMAD6):c.140C>T (p.Pro47Leu)
NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs) rs1567116253
NM_005585.5(SMAD6):c.1417G>C (p.Gly473Arg) rs2140682417
NM_005585.5(SMAD6):c.142C>T (p.Arg48Trp)
NM_005585.5(SMAD6):c.1435C>T (p.Gln479Ter)
NM_005585.5(SMAD6):c.1447T>A (p.Ser483Thr) rs1894575580
NM_005585.5(SMAD6):c.1450T>C (p.Cys484Arg) rs1894575710
NM_005585.5(SMAD6):c.1453C>T (p.Pro485Ser)
NM_005585.5(SMAD6):c.1465G>A (p.Glu489Lys)
NM_005585.5(SMAD6):c.1465G>T (p.Glu489Ter)
NM_005585.5(SMAD6):c.1481A>C (p.Asn494Thr)
NM_005585.5(SMAD6):c.1488del (p.Arg496fs) rs2140682691
NM_005585.5(SMAD6):c.1489T>G (p.Ter497Glu)
NM_005585.5(SMAD6):c.148A>T (p.Arg50Ter)
NM_005585.5(SMAD6):c.153G>C (p.Glu51Asp)
NM_005585.5(SMAD6):c.157G>A (p.Gly53Arg) rs1325349483
NM_005585.5(SMAD6):c.161G>C (p.Gly54Ala)
NM_005585.5(SMAD6):c.161G>T (p.Gly54Val)
NM_005585.5(SMAD6):c.169C>A (p.Arg57Ser)
NM_005585.5(SMAD6):c.16C>T (p.Arg6Cys) rs762143900
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu) rs1595756540
NM_005585.5(SMAD6):c.172T>C (p.Ser58Pro)
NM_005585.5(SMAD6):c.178G>A (p.Val60Ile) rs1298929102
NM_005585.5(SMAD6):c.182G>C (p.Arg61Pro) rs1306731976
NM_005585.5(SMAD6):c.187G>A (p.Val63Ile) rs1595756583
NM_005585.5(SMAD6):c.18_22dup (p.Gly8fs)
NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro) rs1448375284
NM_005585.5(SMAD6):c.1A>G (p.Met1Val)
NM_005585.5(SMAD6):c.208G>A (p.Asp70Asn)
NM_005585.5(SMAD6):c.20C>A (p.Ser7Ter)
NM_005585.5(SMAD6):c.220C>T (p.Gln74Ter) rs1567091382
NM_005585.5(SMAD6):c.222G>C (p.Gln74His)
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter) rs1595756640
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs) rs965061234
NM_005585.5(SMAD6):c.232_250dup (p.Arg84fs) rs965061234
NM_005585.5(SMAD6):c.239C>T (p.Ala80Val) rs1555434180
NM_005585.5(SMAD6):c.240_264del (p.Gly81fs)
NM_005585.5(SMAD6):c.247C>G (p.Arg83Gly) rs1301285133
NM_005585.5(SMAD6):c.250C>T (p.Arg84Trp)
NM_005585.5(SMAD6):c.259G>C (p.Gly87Arg) rs1422119769
NM_005585.5(SMAD6):c.259G>T (p.Gly87Trp)
NM_005585.5(SMAD6):c.25C>G (p.Leu9Val)
NM_005585.5(SMAD6):c.262G>T (p.Gly88Cys) rs887913905
NM_005585.5(SMAD6):c.263G>T (p.Gly88Val)
NM_005585.5(SMAD6):c.263del (p.Gly88fs) rs1199495614
NM_005585.5(SMAD6):c.263dup (p.Arg91fs) rs1199495614
NM_005585.5(SMAD6):c.266C>T (p.Pro89Leu) rs1284707011
NM_005585.5(SMAD6):c.268C>T (p.Pro90Ser)
NM_005585.5(SMAD6):c.269C>G (p.Pro90Arg)
NM_005585.5(SMAD6):c.269C>T (p.Pro90Leu) rs1448623139
NM_005585.5(SMAD6):c.269del (p.Pro90fs) rs1006397889
NM_005585.5(SMAD6):c.269dup (p.Arg91fs) rs1006397889
NM_005585.5(SMAD6):c.26T>C (p.Leu9Pro)
NM_005585.5(SMAD6):c.272G>T (p.Arg91Met)
NM_005585.5(SMAD6):c.277A>C (p.Met93Leu) rs781686740
NM_005585.5(SMAD6):c.281C>T (p.Ser94Leu)
NM_005585.5(SMAD6):c.28G>T (p.Val10Leu)
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser) rs1383502178
NM_005585.5(SMAD6):c.293C>T (p.Ala98Val)
NM_005585.5(SMAD6):c.295G>A (p.Gly99Ser)
NM_005585.5(SMAD6):c.298G>A (p.Ala100Thr) rs946134204
NM_005585.5(SMAD6):c.298G>C (p.Ala100Pro) rs946134204
NM_005585.5(SMAD6):c.29T>G (p.Val10Gly)
NM_005585.5(SMAD6):c.2T>A (p.Met1Lys)
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) rs1409145798
NM_005585.5(SMAD6):c.2T>G (p.Met1Arg) rs1409145798
NM_005585.5(SMAD6):c.301G>A (p.Gly101Arg) rs1433694123
NM_005585.5(SMAD6):c.302G>T (p.Gly101Val)
NM_005585.5(SMAD6):c.303del (p.Ser102fs)
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly) rs1060500751
NM_005585.5(SMAD6):c.319G>A (p.Val107Met)
NM_005585.5(SMAD6):c.32G>A (p.Arg11Gln)
NM_005585.5(SMAD6):c.338C>T (p.Pro113Leu)
NM_005585.5(SMAD6):c.341dup (p.Trp115fs) rs1893030772
NM_005585.5(SMAD6):c.350C>G (p.Pro117Arg)
NM_005585.5(SMAD6):c.350C>T (p.Pro117Leu)
NM_005585.5(SMAD6):c.352G>A (p.Glu118Lys)
NM_005585.5(SMAD6):c.356G>A (p.Ser119Asn)
NM_005585.5(SMAD6):c.358G>A (p.Asp120Asn)
NM_005585.5(SMAD6):c.358G>C (p.Asp120His) rs1397296874
NM_005585.5(SMAD6):c.363C>G (p.Cys121Trp)
NM_005585.5(SMAD6):c.364G>T (p.Glu122Ter) rs1567091529
NM_005585.5(SMAD6):c.382C>A (p.Leu128Ile) rs1567091533
NM_005585.5(SMAD6):c.382C>T (p.Leu128Phe) rs1567091533
NM_005585.5(SMAD6):c.384_385del (p.Ser130fs)
NM_005585.5(SMAD6):c.387_388del (p.Ser130fs) rs2140581496
NM_005585.5(SMAD6):c.38T>G (p.Leu13Arg) rs1893016936
NM_005585.5(SMAD6):c.395G>T (p.Arg132Leu)
NM_005585.5(SMAD6):c.403_423del (p.Ala135_Ala141del)
NM_005585.5(SMAD6):c.403_423dup (p.Ala141_Ser142insAlaGlyAlaProArgAspAla)
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu) rs1595756885
NM_005585.5(SMAD6):c.415C>T (p.Arg139Trp)
NM_005585.5(SMAD6):c.418G>A (p.Asp140Asn)
NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)
NM_005585.5(SMAD6):c.422C>G (p.Ala141Gly)
NM_005585.5(SMAD6):c.425_426delinsTT (p.Ser142Ile)
NM_005585.5(SMAD6):c.428A>T (p.Asp143Val)
NM_005585.5(SMAD6):c.430C>A (p.Pro144Thr)
NM_005585.5(SMAD6):c.439G>C (p.Gly147Arg)
NM_005585.5(SMAD6):c.439G>T (p.Gly147Trp) rs867644316
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly) rs766270982
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)
NM_005585.5(SMAD6):c.446C>T (p.Ala149Val) rs535980291
NM_005585.5(SMAD6):c.455C>T (p.Pro152Leu)
NM_005585.5(SMAD6):c.461dup (p.Gly155fs)
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005585.5(SMAD6):c.465_471dup (p.Ser158fs) rs958818801
NM_005585.5(SMAD6):c.466G>T (p.Gly156Trp)
NM_005585.5(SMAD6):c.474T>G (p.Ser158Arg)
NM_005585.5(SMAD6):c.475C>G (p.Arg159Gly)
NM_005585.5(SMAD6):c.477_478del (p.Glu160fs)
NM_005585.5(SMAD6):c.481G>T (p.Ala161Ser)
NM_005585.5(SMAD6):c.485G>T (p.Arg162Leu)
NM_005585.5(SMAD6):c.488C>A (p.Ser163Ter)
NM_005585.5(SMAD6):c.488C>T (p.Ser163Leu)
NM_005585.5(SMAD6):c.490C>T (p.Arg164Trp)
NM_005585.5(SMAD6):c.493CTG[3] (p.Leu168del)
NM_005585.5(SMAD6):c.493CTG[5] (p.Leu168_Glu169insLeu)
NM_005585.5(SMAD6):c.494T>G (p.Leu165Arg)
NM_005585.5(SMAD6):c.503T>C (p.Leu168Pro)
NM_005585.5(SMAD6):c.505G>T (p.Glu169Ter)
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter) rs1235097131
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter) rs1893037722
NM_005585.5(SMAD6):c.519A>T (p.Lys173Asn)
NM_005585.5(SMAD6):c.521C>T (p.Thr174Ile)
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
NM_005585.5(SMAD6):c.533C>G (p.Ser178Trp)
NM_005585.5(SMAD6):c.533C>T (p.Ser178Leu)
NM_005585.5(SMAD6):c.536T>C (p.Leu179Pro) rs1278620954
NM_005585.5(SMAD6):c.544C>T (p.Arg182Trp)
NM_005585.5(SMAD6):c.550A>C (p.Lys184Gln)
NM_005585.5(SMAD6):c.553G>A (p.Glu185Lys)
NM_005585.5(SMAD6):c.553G>C (p.Glu185Gln) rs1893039406
NM_005585.5(SMAD6):c.553G>T (p.Glu185Ter)
NM_005585.5(SMAD6):c.556C>T (p.Arg186Cys)
NM_005585.5(SMAD6):c.557G>A (p.Arg186His)
NM_005585.5(SMAD6):c.557G>C (p.Arg186Pro)
NM_005585.5(SMAD6):c.559T>C (p.Ser187Pro)
NM_005585.5(SMAD6):c.55G>T (p.Val19Phe)
NM_005585.5(SMAD6):c.569C>A (p.Thr190Lys) rs1893040158
NM_005585.5(SMAD6):c.569C>T (p.Thr190Met) rs1893040158
NM_005585.5(SMAD6):c.583G>A (p.Val195Met)
NM_005585.5(SMAD6):c.584_611del (p.Val195fs)
NM_005585.5(SMAD6):c.586G>T (p.Glu196Ter)
NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp) rs1567091749
NM_005585.5(SMAD6):c.590C>T (p.Ser197Phe)
NM_005585.5(SMAD6):c.592C>T (p.Arg198Cys) rs1261743877
NM_005585.5(SMAD6):c.595G>C (p.Gly199Arg)
NM_005585.5(SMAD6):c.598_612del (p.Gly200_Gly204del)
NM_005585.5(SMAD6):c.605C>T (p.Pro202Leu)
NM_005585.5(SMAD6):c.611G>T (p.Gly204Val)
NM_005585.5(SMAD6):c.613T>G (p.Cys205Gly)
NM_005585.5(SMAD6):c.613del (p.Cys205fs)
NM_005585.5(SMAD6):c.614_615delinsAA (p.Cys205Ter)
NM_005585.5(SMAD6):c.620T>G (p.Leu207Arg)
NM_005585.5(SMAD6):c.623T>C (p.Val208Ala)
NM_005585.5(SMAD6):c.628C>T (p.Arg210Cys)
NM_005585.5(SMAD6):c.635A>G (p.Asp212Gly)
NM_005585.5(SMAD6):c.637C>G (p.Leu213Val)
NM_005585.5(SMAD6):c.638dup (p.Arg214fs)
NM_005585.5(SMAD6):c.641G>A (p.Arg214His)
NM_005585.5(SMAD6):c.649G>T (p.Gly217Cys)
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter) rs1196005021
NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg) rs1567091826
NM_005585.5(SMAD6):c.667dup (p.Gln223fs) rs2140582321
NM_005585.5(SMAD6):c.680G>A (p.Gly227Asp)
NM_005585.5(SMAD6):c.680_684delinsTCGT (p.Gly227fs) rs1893046284
NM_005585.5(SMAD6):c.682C>G (p.Arg228Gly)
NM_005585.5(SMAD6):c.683G>A (p.Arg228His) rs1439907263
NM_005585.5(SMAD6):c.685C>G (p.Leu229Val)
NM_005585.5(SMAD6):c.691C>A (p.Arg231Ser)
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.719A>G (p.Glu240Gly) rs2140582546
NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly)
NM_005585.5(SMAD6):c.725A>C (p.Lys242Thr)
NM_005585.5(SMAD6):c.730C>G (p.Leu244Val)
NM_005585.5(SMAD6):c.736_755dup (p.Asp255fs)
NM_005585.5(SMAD6):c.741C>A (p.Cys247Ter)
NM_005585.5(SMAD6):c.741C>G (p.Cys247Trp) rs2140582642
NM_005585.5(SMAD6):c.746G>T (p.Ser249Ile) rs924088670
NM_005585.5(SMAD6):c.747C>G (p.Ser249Arg)
NM_005585.5(SMAD6):c.748_749delinsGC (p.Phe250Ala)
NM_005585.5(SMAD6):c.752CCG[5] (p.Ala254dup) rs774732566
NM_005585.5(SMAD6):c.754G>T (p.Ala252Ser)
NM_005585.5(SMAD6):c.757G>A (p.Ala253Thr) rs1893050180
NM_005585.5(SMAD6):c.764A>C (p.Asp255Ala)
NM_005585.5(SMAD6):c.781T>G (p.Cys261Gly) rs2140582832
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile) rs1436851649
NM_005585.5(SMAD6):c.787C>A (p.Pro263Thr)
NM_005585.5(SMAD6):c.787C>T (p.Pro263Ser) rs1382712515
NM_005585.5(SMAD6):c.788C>T (p.Pro263Leu) rs765573567
NM_005585.5(SMAD6):c.791del (p.Tyr264fs)
NM_005585.5(SMAD6):c.793C>T (p.His265Tyr) rs1555434295
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005585.5(SMAD6):c.79_84dup (p.Gly28_Gly29insSerGly)
NM_005585.5(SMAD6):c.800G>C (p.Ser267Thr)
NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
NM_005585.5(SMAD6):c.806T>A (p.Leu269His)
NM_005585.5(SMAD6):c.812G>C (p.Gly271Ala)
NM_005585.5(SMAD6):c.814C>G (p.Pro272Ala)
NM_005585.5(SMAD6):c.817+4A>G
NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter) rs1259557323
NM_005585.5(SMAD6):c.818-1G>A
NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup) rs936063348
NM_005585.5(SMAD6):c.832C>T (p.Pro278Ser)
NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp) rs200004068
NM_005585.5(SMAD6):c.842G>A (p.Arg281Gln) rs758203577
NM_005585.5(SMAD6):c.857A>G (p.Asp286Gly)
NM_005585.5(SMAD6):c.874+1G>C
NM_005585.5(SMAD6):c.874+4A>C
NM_005585.5(SMAD6):c.874+4A>G
NM_005585.5(SMAD6):c.874G>A (p.Asp292Asn)
NM_005585.5(SMAD6):c.875-1G>A
NM_005585.5(SMAD6):c.875-1G>C rs768925483
NM_005585.5(SMAD6):c.875-2A>T
NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala) rs1567091237
NM_005585.5(SMAD6):c.89_103dup (p.Asp34_Glu35insGlyGlyGlyGlyAsp)
NM_005585.5(SMAD6):c.900C>G (p.Tyr300Ter)
NM_005585.5(SMAD6):c.901A>G (p.Thr301Ala) rs1470199537
NM_005585.5(SMAD6):c.901A>T (p.Thr301Ser) rs1470199537
NM_005585.5(SMAD6):c.916A>G (p.Thr306Ala)
NM_005585.5(SMAD6):c.928A>G (p.Ile310Val)
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) rs750149627
NM_005585.5(SMAD6):c.93_95del (p.Gly33del) rs1046189206
NM_005585.5(SMAD6):c.953-2A>G rs1016515449
NM_005585.5(SMAD6):c.953-2_968del
NM_005585.5(SMAD6):c.95GCG[4] (p.Gly32_Gly33dup) rs758201660
NM_005585.5(SMAD6):c.976A>G (p.Thr326Ala) rs747009304
NM_005585.5(SMAD6):c.97G>A (p.Gly33Ser)
NM_005585.5(SMAD6):c.97G>T (p.Gly33Cys) rs769111756
NM_005585.5(SMAD6):c.983C>T (p.Pro328Leu)
NM_005585.5(SMAD6):c.991_992insCAC (p.Trp331delinsSerArg) rs2140681073
NM_005585.5(SMAD6):c.993G>C (p.Trp331Cys)
NM_005585.5(SMAD6):c.998G>A (p.Ser333Asn)
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr) rs1319312312
NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser) rs1187747905
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
NM_181486.4(TBX5):c.1242C>A (p.Thr414=) rs370133092
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys) rs886039131
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu) rs2136418134
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr) rs1871581681
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
NM_181486.4(TBX5):c.476A>C (p.Lys159Thr) rs2136416640
NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)
NM_181486.4(TBX5):c.481A>T (p.Thr161Ser) rs2136416621
NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.529C>T (p.His177Tyr)
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
NM_181486.4(TBX5):c.663+6C>G
NM_181486.4(TBX5):c.698C>T (p.Ala233Val) rs1870766147
NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
NM_181486.4(TBX5):c.755+4G>A
NM_181486.4(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_181486.4(TBX5):c.841C>G (p.Leu281Val) rs760177359
NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
NM_181486.4(TBX5):c.927C>A (p.Asn309Lys)
NM_181486.4(TBX5):c.937C>G (p.Leu313Val)
NM_181486.4(TBX5):c.944A>G (p.Gln315Arg)

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