ClinVar Miner

List of variants in gene SMAD4 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP
NM_005359.5(SMAD4):c.*4C>A rs1555687625
NM_005359.5(SMAD4):c.-3C>G rs886053892
NM_005359.5(SMAD4):c.1005A>G (p.Val335=) rs878854762
NM_005359.5(SMAD4):c.1009G>C (p.Glu337Gln) rs1555686464
NM_005359.5(SMAD4):c.1023delT (p.Pro342Leufs) rs1555686469
NM_005359.5(SMAD4):c.102A>G (p.Thr34=) rs146104321
NM_005359.5(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927
NM_005359.5(SMAD4):c.104T>C (p.Phe35Ser) rs786202127
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.5(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.5(SMAD4):c.1139+2dupT rs1555686510
NM_005359.5(SMAD4):c.1139+3A>G rs786202607
NM_005359.5(SMAD4):c.1155A>G (p.Lys385=) rs752938351
NM_005359.5(SMAD4):c.1159G>A (p.Val387Met) rs1010877617
NM_005359.5(SMAD4):c.1198delA (p.Arg400Glyfs) rs1060500734
NM_005359.5(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.5(SMAD4):c.1201dup (p.Cys401Leufs) rs1555686604
NM_005359.5(SMAD4):c.1215C>T (p.His405=) rs751732234
NM_005359.5(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.5(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.5(SMAD4):c.1219G>C (p.Val407Leu) rs147621330
NM_005359.5(SMAD4):c.1228_1229delCA (p.Gln410Glufs) rs1555686608
NM_005359.5(SMAD4):c.1239_1241delCTT (p.Tyr413_Asp552del) rs1555686610
NM_005359.5(SMAD4):c.1242dupA (p.Asp415Argfs) rs786201200
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.5(SMAD4):c.1254T>G (p.Ala418=) rs1186154913
NM_005359.5(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.5(SMAD4):c.1263A>G (p.Ala421=) rs1406947861
NM_005359.5(SMAD4):c.1283A>C (p.Lys428Thr) rs1555686620
NM_005359.5(SMAD4):c.1308+1G>A rs587781618
NM_005359.5(SMAD4):c.1308+1G>T rs587781618
NM_005359.5(SMAD4):c.1310T>G (p.Val437Gly) rs786203940
NM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.5(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.5(SMAD4):c.1349_1376del28 (p.Gln450Leufs) rs876660720
NM_005359.5(SMAD4):c.1349_1376dup (p.Ala460Glyfs) rs876660720
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.5(SMAD4):c.1371A>G (p.Ala457=) rs750933193
NM_005359.5(SMAD4):c.138G>A (p.Lys46=) rs1555685022
NM_005359.5(SMAD4):c.1392C>A (p.Ala464=) rs140487104
NM_005359.5(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.5(SMAD4):c.1393G>A (p.Val465Met) rs786201798
NM_005359.5(SMAD4):c.1403A>G (p.Asn468Ser) rs569981255
NM_005359.5(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.5(SMAD4):c.1418delG (p.Gly473Aspfs) rs1555687388
NM_005359.5(SMAD4):c.1422A>C (p.Ser474=) rs786201261
NM_005359.5(SMAD4):c.1440A>G (p.Pro480=) rs1555687392
NM_005359.5(SMAD4):c.1447+4dupA rs1555687399
NM_005359.5(SMAD4):c.1448-5G>C rs587781640
NM_005359.5(SMAD4):c.1452G>C (p.Leu484=) rs1555687538
NM_005359.5(SMAD4):c.1461T>A (p.Ala487=) rs769607309
NM_005359.5(SMAD4):c.147G>A (p.Glu49=) rs1555685024
NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.5(SMAD4):c.1487G>A (p.Arg496His) rs876660045
NM_005359.5(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.5(SMAD4):c.1501C>A (p.Leu501Ile) rs1555687568
NM_005359.5(SMAD4):c.150A>G (p.Lys50=) rs749503989
NM_005359.5(SMAD4):c.1532C>T (p.Pro511Leu) rs773367516
NM_005359.5(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.5(SMAD4):c.153delA (p.Asp52Metfs) rs786203560
NM_005359.5(SMAD4):c.153dupA (p.Asp52Argfs) rs786203560
NM_005359.5(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.5(SMAD4):c.1547A>G (p.Gln516Arg) rs786202496
NM_005359.5(SMAD4):c.1554C>T (p.Ile518=) rs876660438
NM_005359.5(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.5(SMAD4):c.1561A>C (p.Thr521Pro) rs786203930
NM_005359.5(SMAD4):c.1562C>T (p.Thr521Ile) rs876659840
NM_005359.5(SMAD4):c.1571_1574delGGATins19 (p.?)
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1585_1586dupTT (p.Leu529Phefs) rs876660150
NM_005359.5(SMAD4):c.1596C>T (p.Ala532=) rs765606080
NM_005359.5(SMAD4):c.1611C>T (p.Asp537=) rs369598262
NM_005359.5(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.5(SMAD4):c.1634T>A (p.Ile545Asn) rs730881955
NM_005359.5(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.5(SMAD4):c.1642C>G (p.Pro548Ala) rs876658866
NM_005359.5(SMAD4):c.1644A>G (p.Pro548=) rs756795016
NM_005359.5(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.5(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.5(SMAD4):c.168T>A (p.Ser56=) rs1333506128
NM_005359.5(SMAD4):c.16A>G (p.Ile6Val) rs1376500870
NM_005359.5(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.5(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.5(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.5(SMAD4):c.181A>C (p.Ile61Leu) rs1064794204
NM_005359.5(SMAD4):c.20C>T (p.Thr7Met) rs372316981
NM_005359.5(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.5(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.5(SMAD4):c.228A>G (p.Arg76=) rs587780556
NM_005359.5(SMAD4):c.231A>G (p.Thr77=) rs760990830
NM_005359.5(SMAD4):c.23A>G (p.Asn8Ser) rs876658568
NM_005359.5(SMAD4):c.250-1G>C rs1555685149
NM_005359.5(SMAD4):c.250-3T>C rs1555685140
NM_005359.5(SMAD4):c.250-5T>C rs1232598459
NM_005359.5(SMAD4):c.261G>A (p.Arg87=) rs1057520857
NM_005359.5(SMAD4):c.264A>G (p.Lys88=) rs1555685155
NM_005359.5(SMAD4):c.275_276delAT (p.His92Argfs) rs1555685156
NM_005359.5(SMAD4):c.276T>C (p.His92=) rs762501162
NM_005359.5(SMAD4):c.289C>T (p.Arg97Cys) rs1555685158
NM_005359.5(SMAD4):c.294C>T (p.Leu98=) rs202126703
NM_005359.5(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.5(SMAD4):c.298A>C (p.Arg100=) rs751154230
NM_005359.5(SMAD4):c.315C>T (p.His105=) rs1555685161
NM_005359.5(SMAD4):c.319A>G (p.Asn107Asp) rs1555685162
NM_005359.5(SMAD4):c.320A>G (p.Asn107Ser) rs1555685163
NM_005359.5(SMAD4):c.336T>A (p.Val112=) rs1328102060
NM_005359.5(SMAD4):c.342T>C (p.Tyr114=) rs757211048
NM_005359.5(SMAD4):c.344G>A (p.Cys115Tyr) rs876659844
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.369T>C (p.Cys123=) rs140926102
NM_005359.5(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.5(SMAD4):c.380G>A (p.Cys127Tyr) rs1555685182
NM_005359.5(SMAD4):c.387T>C (p.Asn129=) rs150229208
NM_005359.5(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.5(SMAD4):c.399C>T (p.Tyr133=) rs779069779
NM_005359.5(SMAD4):c.39T>C (p.Asn13=) rs376371717
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005359.5(SMAD4):c.425-5T>C rs1555685238
NM_005359.5(SMAD4):c.430_431delTC (p.Ser144Argfs) rs377767328
NM_005359.5(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.5(SMAD4):c.464G>A (p.Ser155Asn) rs199790852
NM_005359.5(SMAD4):c.466A>T (p.Met156Leu) rs534355764
NM_005359.5(SMAD4):c.469_471delATG (p.Met157del) rs786201939
NM_005359.5(SMAD4):c.471G>A (p.Met157Ile) rs780716382
NM_005359.5(SMAD4):c.474G>A (p.Val158=) rs749594930
NM_005359.5(SMAD4):c.483A>G (p.Glu161=) rs786201120
NM_005359.5(SMAD4):c.484T>C (p.Tyr162His) rs786203155
NM_005359.5(SMAD4):c.491A>G (p.His164Arg) rs876660058
NM_005359.5(SMAD4):c.4G>A (p.Asp2Asn) rs1555684979
NM_005359.5(SMAD4):c.503G>A (p.Gly168Glu) rs1555685631
NM_005359.5(SMAD4):c.507G>A (p.Gln169=) rs876659426
NM_005359.5(SMAD4):c.516G>A (p.Leu172=) rs1392368498
NM_005359.5(SMAD4):c.521C>A (p.Thr174Asn) rs138800446
NM_005359.5(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.5(SMAD4):c.535A>G (p.Ile179Val) rs542392980
NM_005359.5(SMAD4):c.547C>G (p.Gln183Glu) rs1555685645
NM_005359.5(SMAD4):c.554C>T (p.Pro185Leu) rs770798845
NM_005359.5(SMAD4):c.556C>G (p.Pro186Ala) rs1555685648
NM_005359.5(SMAD4):c.565C>G (p.Arg189Gly) rs140743238
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.566G>T (p.Arg189Leu) rs759288477
NM_005359.5(SMAD4):c.570A>C (p.Ala190=) rs200717327
NM_005359.5(SMAD4):c.573G>A (p.Ser191=) rs761936246
NM_005359.5(SMAD4):c.575C>T (p.Thr192Ile) rs587780792
NM_005359.5(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.5(SMAD4):c.584A>G (p.Tyr195Cys) rs1555685656
NM_005359.5(SMAD4):c.591C>G (p.Thr197=) rs1464524083
NM_005359.5(SMAD4):c.599T>C (p.Leu200Pro) rs786203737
NM_005359.5(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.5(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.5(SMAD4):c.62A>G (p.His21Arg) rs1280706054
NM_005359.5(SMAD4):c.632C>G (p.Thr211Ser) rs1555685671
NM_005359.5(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.5(SMAD4):c.638A>G (p.Asn213Ser) rs757977781
NM_005359.5(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.5(SMAD4):c.650T>G (p.Ile217Ser) rs1555685674
NM_005359.5(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.671A>T (p.Gln224Leu) rs587780793
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.5(SMAD4):c.692dupG (p.Ser232Glnfs) rs377767334
NM_005359.5(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005359.5(SMAD4):c.697C>A (p.His233Asn) rs552880257
NM_005359.5(SMAD4):c.706G>A (p.Gly236Arg) rs876658788
NM_005359.5(SMAD4):c.70A>G (p.Met24Val) rs876659391
NM_005359.5(SMAD4):c.736C>A (p.Pro246Thr) rs876659967
NM_005359.5(SMAD4):c.743A>T (p.Gln248Leu) rs751985298
NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005359.5(SMAD4):c.752delA (p.Asn251Metfs) rs1555685925
NM_005359.5(SMAD4):c.75C>T (p.Cys25=) rs1555685008
NM_005359.5(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.5(SMAD4):c.776C>T (p.Thr259Ile) rs786202113
NM_005359.5(SMAD4):c.777T>C (p.Thr259=) rs1555685935
NM_005359.5(SMAD4):c.789C>T (p.Asn263=) rs763510526
NM_005359.5(SMAD4):c.798C>T (p.Thr266=) rs876660662
NM_005359.5(SMAD4):c.84A>G (p.Gln28=) rs778465458
NM_005359.5(SMAD4):c.852A>G (p.Gln284=) rs144378484
NM_005359.5(SMAD4):c.855C>T (p.Asn285=) rs1187796771
NM_005359.5(SMAD4):c.861T>C (p.His287=) rs1555685963
NM_005359.5(SMAD4):c.870C>T (p.His290=) rs1060504029
NM_005359.5(SMAD4):c.871C>T (p.His291Tyr) rs863224733
NM_005359.5(SMAD4):c.875C>T (p.Pro292Leu) rs786201404
NM_005359.5(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.5(SMAD4):c.884C>T (p.Pro295Leu) rs370176106
NM_005359.5(SMAD4):c.885G>A (p.Pro295=) rs772028872
NM_005359.5(SMAD4):c.888C>G (p.Pro296=) rs1060504026
NM_005359.5(SMAD4):c.894C>T (p.Pro298=) rs781519690
NM_005359.5(SMAD4):c.898_904+1dupCATTACTG rs1555685974
NM_005359.5(SMAD4):c.903delC (p.Trp302Glyfs) rs1555685978
NM_005359.5(SMAD4):c.905-1G>A rs1555686070
NM_005359.5(SMAD4):c.905G>A (p.Trp302Ter) rs1555686071
NM_005359.5(SMAD4):c.909T>C (p.Pro303=) rs141149381
NM_005359.5(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.5(SMAD4):c.90A>G (p.Gly30=) rs876660353
NM_005359.5(SMAD4):c.917A>G (p.Asn306Ser) rs730881953
NM_005359.5(SMAD4):c.921G>A (p.Glu307=) rs876660255
NM_005359.5(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.5(SMAD4):c.930C>G (p.Phe310Leu) rs876658257
NM_005359.5(SMAD4):c.931C>T (p.Gln311Ter) rs876658694
NM_005359.5(SMAD4):c.939C>T (p.Pro313=) rs1305282354
NM_005359.5(SMAD4):c.940A>G (p.Ile314Val) rs748622028
NM_005359.5(SMAD4):c.945C>T (p.Ser315=) rs1408798906
NM_005359.5(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.5(SMAD4):c.956-3T>C rs748283001
NM_005359.5(SMAD4):c.956-4A>G rs1295343500
NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005359.5(SMAD4):c.9T>C (p.Asn3=) rs762273127

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