ClinVar Miner

List of variants in gene SMAD4 reported as likely benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813 0.00832
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.*4867dup rs571773833 0.00286
NM_005359.6(SMAD4):c.*2968del rs574286440 0.00280
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_005359.6(SMAD4):c.747G>C (p.Gln249His) rs372095620 0.00014
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=) rs753128184 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=) rs121912577 0.00004
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005359.5(SMAD4):c.*6588C>G rs186324049 0.00003
NM_005359.6(SMAD4):c.1215C>T (p.His405=) rs751732234 0.00003
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=) rs769607309 0.00003
NM_005359.6(SMAD4):c.411A>G (p.Val137=) rs201296880 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.132A>G (p.Val44=) rs965942065 0.00002
NM_005359.6(SMAD4):c.1611C>T (p.Asp537=) rs369598262 0.00002
NM_005359.6(SMAD4):c.261G>A (p.Arg87=) rs1057520857 0.00002
NM_005359.6(SMAD4):c.294C>T (p.Leu98=) rs202126703 0.00002
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048 0.00002
NM_005359.6(SMAD4):c.369T>C (p.Cys123=) rs140926102 0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792 0.00002
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) rs370176106 0.00002
NM_005359.6(SMAD4):c.966T>C (p.Tyr322=) rs1465916558 0.00002
NM_005359.6(SMAD4):c.9T>C (p.Asn3=) rs762273127 0.00002
NM_005359.6(SMAD4):c.1005A>G (p.Val335=) rs878854762 0.00001
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831 0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927 0.00001
NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=) rs863224400 0.00001
NM_005359.6(SMAD4):c.1098A>G (p.Gln366=) rs990054989 0.00001
NM_005359.6(SMAD4):c.1140G>A (p.Arg380=) rs1060504025 0.00001
NM_005359.6(SMAD4):c.1155A>G (p.Lys385=) rs752938351 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.1254T>G (p.Ala418=) rs1186154913 0.00001
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) rs1406947861 0.00001
NM_005359.6(SMAD4):c.1299A>G (p.Ala433=) rs370558697 0.00001
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791 0.00001
NM_005359.6(SMAD4):c.1371A>G (p.Ala457=) rs750933193 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.144G>A (p.Lys48=) rs1057523437 0.00001
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.150A>G (p.Lys50=) rs749503989 0.00001
NM_005359.6(SMAD4):c.1596C>T (p.Ala532=) rs765606080 0.00001
NM_005359.6(SMAD4):c.160T>C (p.Leu54=) rs1053158497 0.00001
NM_005359.6(SMAD4):c.183A>C (p.Ile61=) rs761937143 0.00001
NM_005359.6(SMAD4):c.231A>G (p.Thr77=) rs760990830 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_005359.6(SMAD4):c.336T>A (p.Val112=) rs1328102060 0.00001
NM_005359.6(SMAD4):c.366A>G (p.Lys122=) rs1057524633 0.00001
NM_005359.6(SMAD4):c.375T>C (p.Ser125=) rs863224401 0.00001
NM_005359.6(SMAD4):c.387T>C (p.Asn129=) rs150229208 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.390A>G (p.Pro130=) rs755862230 0.00001
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=) rs779069779 0.00001
NM_005359.6(SMAD4):c.408T>C (p.Val136=) rs1283790116 0.00001
NM_005359.6(SMAD4):c.510A>G (p.Pro170=) rs144226135 0.00001
NM_005359.6(SMAD4):c.519C>T (p.Ser173=) rs778576111 0.00001
NM_005359.6(SMAD4):c.525A>G (p.Glu175=) rs368528856 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.585C>T (p.Tyr195=) rs1316902116 0.00001
NM_005359.6(SMAD4):c.594A>C (p.Pro198=) rs547278031 0.00001
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser) rs757977781 0.00001
NM_005359.6(SMAD4):c.642T>C (p.Phe214=) rs1281575334 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) rs1397172791 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298 0.00001
NM_005359.6(SMAD4):c.768G>A (p.Gln256=) rs755677513 0.00001
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) rs763510526 0.00001
NM_005359.6(SMAD4):c.832C>A (p.Pro278Thr) rs1257577085 0.00001
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) rs1187796771 0.00001
NM_005359.6(SMAD4):c.870C>T (p.His290=) rs1060504029 0.00001
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) rs753358186 0.00001
NM_005359.6(SMAD4):c.885G>A (p.Pro295=) rs772028872 0.00001
NM_005359.6(SMAD4):c.888C>G (p.Pro296=) rs1060504026 0.00001
NM_005359.6(SMAD4):c.894C>T (p.Pro298=) rs781519690 0.00001
NM_005359.6(SMAD4):c.945C>T (p.Ser315=) rs1408798906 0.00001
NM_005359.6(SMAD4):c.956-4A>G rs1295343500 0.00001
NM_005359.6(SMAD4):c.960T>C (p.Pro320=) rs1568208159 0.00001
NM_005359.6(SMAD4):c.975C>T (p.Ser325=) rs1228827259 0.00001
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4585GA[1] rs374333786
NM_005359.6(SMAD4):c.*6353del rs573785159
NM_005359.6(SMAD4):c.1014A>T (p.Thr338=)
NM_005359.6(SMAD4):c.1090T>C (p.Leu364=) rs1568208261
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) rs765051479
NM_005359.6(SMAD4):c.1104C>G (p.Ser368=)
NM_005359.6(SMAD4):c.1119A>T (p.Thr373=) rs1166695591
NM_005359.6(SMAD4):c.1122A>G (p.Glu374=) rs373141146
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_005359.6(SMAD4):c.1131G>A (p.Glu377=) rs1568208287
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.1140-4T>C rs1057521045
NM_005359.6(SMAD4):c.1140-5C>G rs1599196891
NM_005359.6(SMAD4):c.1206T>A (p.Leu402=) rs758696549
NM_005359.6(SMAD4):c.1206T>C (p.Leu402=) rs758696549
NM_005359.6(SMAD4):c.1221C>T (p.Val407=)
NM_005359.6(SMAD4):c.1230G>A (p.Gln410=) rs1599197071
NM_005359.6(SMAD4):c.1233T>C (p.Ser411=) rs1910182492
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1257G>C (p.Gly419=) rs1303474905
NM_005359.6(SMAD4):c.1269A>G (p.Gly423=) rs1052676207
NM_005359.6(SMAD4):c.1278T>C (p.Val426=)
NM_005359.6(SMAD4):c.1287C>T (p.Ile429=) rs1555686621
NM_005359.6(SMAD4):c.1290C>T (p.Tyr430=)
NM_005359.6(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.6(SMAD4):c.1320G>A (p.Leu440=) rs1599204046
NM_005359.6(SMAD4):c.1335A>G (p.Arg445=)
NM_005359.6(SMAD4):c.1347G>A (p.Gln449=) rs1910478522
NM_005359.6(SMAD4):c.1350G>A (p.Gln450=) rs751279659
NM_005359.6(SMAD4):c.1362A>G (p.Ala454=)
NM_005359.6(SMAD4):c.1377T>G (p.Ala459=)
NM_005359.6(SMAD4):c.1380C>T (p.Ala460=) rs1910480314
NM_005359.6(SMAD4):c.1389A>T (p.Ala463=) rs1599204151
NM_005359.6(SMAD4):c.138G>A (p.Lys46=) rs1555685022
NM_005359.6(SMAD4):c.1392C>A (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.1407C>T (p.Ile469=)
NM_005359.6(SMAD4):c.1434A>T (p.Ile478=)
NM_005359.6(SMAD4):c.1440A>G (p.Pro480=) rs1555687392
NM_005359.6(SMAD4):c.1452G>C (p.Leu484=) rs1555687538
NM_005359.6(SMAD4):c.1464T>A (p.Ala488=)
NM_005359.6(SMAD4):c.1464T>C (p.Ala488=) rs1555687539
NM_005359.6(SMAD4):c.1464T>G (p.Ala488=) rs1555687539
NM_005359.6(SMAD4):c.1473T>G (p.Gly491=)
NM_005359.6(SMAD4):c.147G>A (p.Glu49=) rs1555685024
NM_005359.6(SMAD4):c.1485T>G (p.Leu495=) rs1555687550
NM_005359.6(SMAD4):c.1491C>A (p.Arg497=)
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.6(SMAD4):c.1512T>C (p.Ser504=) rs1599205322
NM_005359.6(SMAD4):c.1521A>G (p.Lys507=) rs1599205337
NM_005359.6(SMAD4):c.1530A>T (p.Gly510=)
NM_005359.6(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1533G>T (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1548G>A (p.Gln516=)
NM_005359.6(SMAD4):c.1554C>T (p.Ile518=) rs876660438
NM_005359.6(SMAD4):c.1563A>G (p.Thr521=) rs1599205437
NM_005359.6(SMAD4):c.1566T>A (p.Pro522=)
NM_005359.6(SMAD4):c.1599C>G (p.Leu533=)
NM_005359.6(SMAD4):c.1606C>T (p.Leu536=) rs587780790
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.1632G>T (p.Pro544=)
NM_005359.6(SMAD4):c.168T>A (p.Ser56=) rs1333506128
NM_005359.6(SMAD4):c.168T>C (p.Ser56=)
NM_005359.6(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.6(SMAD4):c.183A>T (p.Ile61=)
NM_005359.6(SMAD4):c.186T>C (p.Thr62=) rs1599181199
NM_005359.6(SMAD4):c.192T>C (p.Asn64=) rs1555685037
NM_005359.6(SMAD4):c.198T>C (p.Ala66=) rs1568203034
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.240G>A (p.Gly80=)
NM_005359.6(SMAD4):c.255T>G (p.Ala85=) rs1555685152
NM_005359.6(SMAD4):c.264A>G (p.Lys88=) rs1555685155
NM_005359.6(SMAD4):c.267A>G (p.Gly89=)
NM_005359.6(SMAD4):c.274C>T (p.His92Tyr)
NM_005359.6(SMAD4):c.27A>T (p.Thr9=) rs1360609728
NM_005359.6(SMAD4):c.282C>A (p.Ile94=) rs1599182415
NM_005359.6(SMAD4):c.282C>T (p.Ile94=) rs1599182415
NM_005359.6(SMAD4):c.285T>C (p.Tyr95=) rs1599182420
NM_005359.6(SMAD4):c.30A>T (p.Pro10=) rs761044209
NM_005359.6(SMAD4):c.312T>C (p.Leu104=)
NM_005359.6(SMAD4):c.315C>T (p.His105=) rs1555685161
NM_005359.6(SMAD4):c.330A>G (p.Lys110=) rs1909619980
NM_005359.6(SMAD4):c.333T>C (p.His111=) rs1568203454
NM_005359.6(SMAD4):c.339A>G (p.Lys113=) rs1568203460
NM_005359.6(SMAD4):c.351T>C (p.Tyr117=) rs1555685176
NM_005359.6(SMAD4):c.357T>C (p.Phe119=)
NM_005359.6(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.6(SMAD4):c.378C>A (p.Val126=)
NM_005359.6(SMAD4):c.390A>T (p.Pro130=) rs755862230
NM_005359.6(SMAD4):c.39T>C (p.Asn13=) rs376371717
NM_005359.6(SMAD4):c.420A>C (p.Gly140=) rs1599182589
NM_005359.6(SMAD4):c.425-5T>C rs1555685238
NM_005359.6(SMAD4):c.441A>G (p.Thr147=) rs1331767404
NM_005359.6(SMAD4):c.447G>A (p.Gln149=)
NM_005359.6(SMAD4):c.455-4A>G rs1599186761
NM_005359.6(SMAD4):c.462A>T (p.Ser154=)
NM_005359.6(SMAD4):c.474G>A (p.Val158=) rs749594930
NM_005359.6(SMAD4):c.486T>C (p.Tyr162=) rs1057523970
NM_005359.6(SMAD4):c.49C>T (p.Leu17=) rs1555684997
NM_005359.6(SMAD4):c.501G>A (p.Glu167=)
NM_005359.6(SMAD4):c.507G>A (p.Gln169=) rs876659426
NM_005359.6(SMAD4):c.513G>A (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.513G>C (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.513G>T (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.516G>A (p.Leu172=) rs1392368498
NM_005359.6(SMAD4):c.51G>C (p.Leu17=) rs950414097
NM_005359.6(SMAD4):c.528A>C (p.Gly176=) rs2144418503
NM_005359.6(SMAD4):c.549G>A (p.Gln183=)
NM_005359.6(SMAD4):c.54C>T (p.Ser18=) rs1599181066
NM_005359.6(SMAD4):c.570A>C (p.Ala190=) rs200717327
NM_005359.6(SMAD4):c.573G>A (p.Ser191=) rs761936246
NM_005359.6(SMAD4):c.576A>G (p.Thr192=) rs1599186950
NM_005359.6(SMAD4):c.591C>G (p.Thr197=) rs1464524083
NM_005359.6(SMAD4):c.609A>C (p.Pro203=) rs2144419276
NM_005359.6(SMAD4):c.609A>G (p.Pro203=) rs2144419276
NM_005359.6(SMAD4):c.60G>A (p.Val20=) rs1057520442
NM_005359.6(SMAD4):c.621T>C (p.Asn207=) rs1452122852
NM_005359.6(SMAD4):c.624T>C (p.Ala208=)
NM_005359.6(SMAD4):c.627C>T (p.Thr209=) rs905151346
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.6(SMAD4):c.63T>C (p.His21=) rs1555685004
NM_005359.6(SMAD4):c.645C>T (p.Pro215=) rs1599187076
NM_005359.6(SMAD4):c.648C>T (p.Asn216=) rs1599187091
NM_005359.6(SMAD4):c.651T>A (p.Ile217=) rs997151197
NM_005359.6(SMAD4):c.654T>C (p.Pro218=)
NM_005359.6(SMAD4):c.660T>A (p.Ala220=)
NM_005359.6(SMAD4):c.684A>C (p.Ile228=) rs1555685906
NM_005359.6(SMAD4):c.685C>T (p.Leu229=) rs901210743
NM_005359.6(SMAD4):c.687G>C (p.Leu229=) rs776840348
NM_005359.6(SMAD4):c.689G>C (p.Gly230Ala) rs1599189454
NM_005359.6(SMAD4):c.690G>A (p.Gly230=) rs1599189462
NM_005359.6(SMAD4):c.690G>C (p.Gly230=) rs1599189462
NM_005359.6(SMAD4):c.692G>C (p.Gly231Ala) rs759679579
NM_005359.6(SMAD4):c.699T>C (p.His233=) rs367964910
NM_005359.6(SMAD4):c.711G>T (p.Leu237=) rs2144426991
NM_005359.6(SMAD4):c.712T>C (p.Leu238=) rs1599189507
NM_005359.6(SMAD4):c.723A>G (p.Ala241=) rs1599189527
NM_005359.6(SMAD4):c.723A>T (p.Ala241=) rs1599189527
NM_005359.6(SMAD4):c.729G>T (p.Gly243=)
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.750G>A (p.Gln250=) rs1555685922
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.75C>T (p.Cys25=) rs1555685008
NM_005359.6(SMAD4):c.777T>C (p.Thr259=) rs1555685935
NM_005359.6(SMAD4):c.780C>T (p.Tyr260=) rs1568206103
NM_005359.6(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.6(SMAD4):c.795T>C (p.Thr265=) rs1568206153
NM_005359.6(SMAD4):c.798C>A (p.Thr266=)
NM_005359.6(SMAD4):c.798C>T (p.Thr266=) rs876660662
NM_005359.6(SMAD4):c.816G>A (p.Arg272=) rs1231028123
NM_005359.6(SMAD4):c.825A>G (p.Pro275=) rs762166596
NM_005359.6(SMAD4):c.858C>A (p.Gly286=)
NM_005359.6(SMAD4):c.861T>C (p.His287=) rs1555685963
NM_005359.6(SMAD4):c.864T>C (p.Leu288=)
NM_005359.6(SMAD4):c.879T>A (p.Pro293=)
NM_005359.6(SMAD4):c.885G>T (p.Pro295=) rs772028872
NM_005359.6(SMAD4):c.897A>T (p.Gly299=)
NM_005359.6(SMAD4):c.909T>A (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.909T>C (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.90A>G (p.Gly30=) rs876660353
NM_005359.6(SMAD4):c.915C>T (p.His305=) rs1909959040
NM_005359.6(SMAD4):c.921G>A (p.Glu307=) rs876660255
NM_005359.6(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.6(SMAD4):c.927A>C (p.Ala309=) rs369088915
NM_005359.6(SMAD4):c.927A>G (p.Ala309=) rs369088915
NM_005359.6(SMAD4):c.939C>T (p.Pro313=) rs1305282354
NM_005359.6(SMAD4):c.954T>A (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.954T>G (p.Pro318=)
NM_005359.6(SMAD4):c.963G>A (p.Glu321=) rs1057523565

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