ClinVar Miner

List of variants in gene SMAD4 reported by Color

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Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP
NM_005359.5(SMAD4):c.*11C>T rs11663402
NM_005359.5(SMAD4):c.*12G>A rs148687037
NM_005359.5(SMAD4):c.*13T>C rs1039813805
NM_005359.5(SMAD4):c.*14T>C rs989027869
NM_005359.5(SMAD4):c.*14T>G rs989027869
NM_005359.5(SMAD4):c.*1G>A rs1555687622
NM_005359.5(SMAD4):c.*1G>C rs1555687622
NM_005359.5(SMAD4):c.*7_*8del rs1176679575
NM_005359.5(SMAD4):c.-15G>A rs1555684975
NM_005359.5(SMAD4):c.-20A>C rs1057520801
NM_005359.5(SMAD4):c.-3C>G rs886053892
NM_005359.5(SMAD4):c.1008A>G (p.Gly336=) rs1555686461
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.1059C>T (p.Tyr353=) rs863224400
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1090T>C (p.Leu364=) rs1568208261
NM_005359.5(SMAD4):c.1098A>G (p.Gln366=) rs990054989
NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.5(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499
NM_005359.5(SMAD4):c.1139+13T>A rs752709023
NM_005359.5(SMAD4):c.1139+17C>T rs1568208314
NM_005359.5(SMAD4):c.1140-10T>C rs186332162
NM_005359.5(SMAD4):c.1140-11T>A rs1224777335
NM_005359.5(SMAD4):c.1140-19delT rs1555686591
NM_005359.5(SMAD4):c.1140-3A>C rs956212866
NM_005359.5(SMAD4):c.1148T>C (p.Ile383Thr) rs377767355
NM_005359.5(SMAD4):c.1155A>G (p.Lys385=) rs752938351
NM_005359.5(SMAD4):c.1173T>C (p.Cys391=) rs1555686601
NM_005359.5(SMAD4):c.1206T>A (p.Leu402=) rs758696549
NM_005359.5(SMAD4):c.1215C>T (p.His405=) rs751732234
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.1258C>T (p.Arg420Cys) rs1367209662
NM_005359.5(SMAD4):c.1263A>G (p.Ala421=) rs1406947861
NM_005359.5(SMAD4):c.1280A>G (p.His427Arg) rs1555686619
NM_005359.5(SMAD4):c.1287C>T (p.Ile429=) rs1555686621
NM_005359.5(SMAD4):c.1299A>G (p.Ala433=) rs370558697
NM_005359.5(SMAD4):c.1308+10A>G rs1060504024
NM_005359.5(SMAD4):c.1308+11A>C rs773719398
NM_005359.5(SMAD4):c.1308+4A>T rs1555686626
NM_005359.5(SMAD4):c.1308+9C>A rs1057522058
NM_005359.5(SMAD4):c.1309-16T>C rs1555687375
NM_005359.5(SMAD4):c.1309-5A>G rs1568211170
NM_005359.5(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005359.5(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.5(SMAD4):c.1326G>A (p.Gln442=) rs1568211178
NM_005359.5(SMAD4):c.1326G>C (p.Gln442His) rs1568211178
NM_005359.5(SMAD4):c.1339A>C (p.Met447Leu) rs1568211184
NM_005359.5(SMAD4):c.1353G>A (p.Ala451=) rs1441353791
NM_005359.5(SMAD4):c.1371A>G (p.Ala457=) rs750933193
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.1422A>C (p.Ser474=) rs786201261
NM_005359.5(SMAD4):c.1438C>T (p.Pro480Ser) rs1555687390
NM_005359.5(SMAD4):c.1447+16A>G rs776280713
NM_005359.5(SMAD4):c.1447+17T>C rs1024598107
NM_005359.5(SMAD4):c.1448-18C>T rs1568211501
NM_005359.5(SMAD4):c.1461T>A (p.Ala487=) rs769607309
NM_005359.5(SMAD4):c.1473T>C (p.Gly491=) rs1207826883
NM_005359.5(SMAD4):c.1479T>C (p.Asp493=) rs1568211528
NM_005359.5(SMAD4):c.1485T>G (p.Leu495=) rs1555687550
NM_005359.5(SMAD4):c.1487G>A (p.Arg496His) rs876660045
NM_005359.5(SMAD4):c.1492T>C (p.Leu498=) rs1057520520
NM_005359.5(SMAD4):c.150A>G (p.Lys50=) rs749503989
NM_005359.5(SMAD4):c.1525T>G (p.Trp509Gly) rs377767369
NM_005359.5(SMAD4):c.1530A>G (p.Gly510=) rs1568211560
NM_005359.5(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.5(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.5(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1608A>G (p.Leu536=) rs753128184
NM_005359.5(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.5(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
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.16A>G (p.Ile6Val) rs1376500870
NM_005359.5(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.5(SMAD4):c.179C>T (p.Ala60Val) rs1555685030
NM_005359.5(SMAD4):c.181A>G (p.Ile61Val) rs1064794204
NM_005359.5(SMAD4):c.183A>C (p.Ile61=) rs761937143
NM_005359.5(SMAD4):c.198T>C (p.Ala66=) rs1568203034
NM_005359.5(SMAD4):c.209A>C (p.Lys70Thr) rs1555685038
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.228A>G (p.Arg76=) rs587780556
NM_005359.5(SMAD4):c.231A>G (p.Thr77=) rs760990830
NM_005359.5(SMAD4):c.249+10A>C rs752243771
NM_005359.5(SMAD4):c.249+14G>A rs777811251
NM_005359.5(SMAD4):c.249+21dup rs1568203059
NM_005359.5(SMAD4):c.250-14G>A rs1180310843
NM_005359.5(SMAD4):c.250-15C>T rs375910294
NM_005359.5(SMAD4):c.261G>A (p.Arg87=) rs1057520857
NM_005359.5(SMAD4):c.276T>C (p.His92=) rs762501162
NM_005359.5(SMAD4):c.27A>G (p.Thr9=) rs1360609728
NM_005359.5(SMAD4):c.294C>T (p.Leu98=) rs202126703
NM_005359.5(SMAD4):c.304C>G (p.Pro102Ala) rs1568203445
NM_005359.5(SMAD4):c.325C>T (p.Leu109=) rs1248541873
NM_005359.5(SMAD4):c.332A>C (p.His111Pro) rs1064794363
NM_005359.5(SMAD4):c.333T>A (p.His111Gln) rs1568203454
NM_005359.5(SMAD4):c.342T>C (p.Tyr114=) rs757211048
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.366A>G (p.Lys122=) rs1057524633
NM_005359.5(SMAD4):c.369T>C (p.Cys123=) rs140926102
NM_005359.5(SMAD4):c.375T>C (p.Ser125=) rs863224401
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.424+19C>A rs1004249434
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005359.5(SMAD4):c.424+6T>C rs771456293
NM_005359.5(SMAD4):c.425-17C>T rs767419859
NM_005359.5(SMAD4):c.432A>C (p.Ser144=) rs1568203600
NM_005359.5(SMAD4):c.442C>G (p.Leu148Val) rs1568203602
NM_005359.5(SMAD4):c.454+20C>T rs758615780
NM_005359.5(SMAD4):c.454+7A>C rs755891338
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.45C>T (p.Ala15=) rs1555684991
NM_005359.5(SMAD4):c.466A>T (p.Met156Leu) rs534355764
NM_005359.5(SMAD4):c.471G>A (p.Met157Ile) rs780716382
NM_005359.5(SMAD4):c.510A>G (p.Pro170=) rs144226135
NM_005359.5(SMAD4):c.519C>T (p.Ser173=) rs778576111
NM_005359.5(SMAD4):c.521C>A (p.Thr174Asn) rs138800446
NM_005359.5(SMAD4):c.530A>C (p.His177Pro) rs1568205026
NM_005359.5(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.5(SMAD4):c.554C>T (p.Pro185Leu) rs770798845
NM_005359.5(SMAD4):c.55A>G (p.Ile19Val) rs1568202964
NM_005359.5(SMAD4):c.560G>A (p.Ser187Asn) rs927620013
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.566G>A (p.Arg189His) rs759288477
NM_005359.5(SMAD4):c.566G>T (p.Arg189Leu) rs759288477
NM_005359.5(SMAD4):c.568G>T (p.Ala190Ser) rs61751988
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.580A>T (p.Thr194Ser) rs1432058632
NM_005359.5(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.5(SMAD4):c.585C>T (p.Tyr195=) rs1316902116
NM_005359.5(SMAD4):c.58G>T (p.Val20Leu) rs1568202971
NM_005359.5(SMAD4):c.594A>C (p.Pro198=) rs547278031
NM_005359.5(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.5(SMAD4):c.614A>C (p.Glu205Ala) rs748615724
NM_005359.5(SMAD4):c.620A>G (p.Asn207Ser) rs1568205077
NM_005359.5(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.5(SMAD4):c.644C>G (p.Pro215Arg) rs777495692
NM_005359.5(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.5(SMAD4):c.651T>G (p.Ile217Met) rs997151197
NM_005359.5(SMAD4):c.652C>G (p.Pro218Ala) rs1345146274
NM_005359.5(SMAD4):c.667+12A>C rs1555685677
NM_005359.5(SMAD4):c.667+17G>A rs370726274
NM_005359.5(SMAD4):c.667+22_667+24delAGT rs753440205
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.667+6T>C rs1060500745
NM_005359.5(SMAD4):c.667+9T>C rs776523203
NM_005359.5(SMAD4):c.668-11T>G rs1469889617
NM_005359.5(SMAD4):c.668-19T>G rs1555685896
NM_005359.5(SMAD4):c.668-6C>G rs748992694
NM_005359.5(SMAD4):c.675_676delTGinsCC (p.Ala226Pro) rs1568206030
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.5(SMAD4):c.679A>G (p.Ser227Gly) rs1443767329
NM_005359.5(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005359.5(SMAD4):c.700A>C (p.Ser234Arg) rs758642067
NM_005359.5(SMAD4):c.700A>G (p.Ser234Gly) rs758642067
NM_005359.5(SMAD4):c.702T>G (p.Ser234Arg) rs1555685911
NM_005359.5(SMAD4):c.715C>G (p.Gln239Glu) rs1163381283
NM_005359.5(SMAD4):c.716A>T (p.Gln239Leu) rs1555685916
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.750G>A (p.Gln250=) rs1555685922
NM_005359.5(SMAD4):c.752A>G (p.Asn251Ser) rs1555685926
NM_005359.5(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.5(SMAD4):c.768G>A (p.Gln256=) rs755677513
NM_005359.5(SMAD4):c.779A>C (p.Tyr260Ser) rs1555685937
NM_005359.5(SMAD4):c.780C>T (p.Tyr260=) rs1568206103
NM_005359.5(SMAD4):c.787+15T>A rs374687785
NM_005359.5(SMAD4):c.787+15T>C rs374687785
NM_005359.5(SMAD4):c.787+15T>G rs374687785
NM_005359.5(SMAD4):c.787+18A>C rs748015964
NM_005359.5(SMAD4):c.787+1G>A rs1568206107
NM_005359.5(SMAD4):c.787+21dup rs1312566534
NM_005359.5(SMAD4):c.788-14G>A rs769943457
NM_005359.5(SMAD4):c.788-14G>T rs769943457
NM_005359.5(SMAD4):c.789C>T (p.Asn263=) rs763510526
NM_005359.5(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.5(SMAD4):c.795T>C (p.Thr265=) rs1568206153
NM_005359.5(SMAD4):c.845A>C (p.His282Pro) rs1555685962
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.860A>G (p.His287Arg) rs1568206180
NM_005359.5(SMAD4):c.870C>T (p.His290=) rs1060504029
NM_005359.5(SMAD4):c.875C>T (p.Pro292Leu) rs786201404
NM_005359.5(SMAD4):c.876G>A (p.Pro292=) rs753358186
NM_005359.5(SMAD4):c.877C>T (p.Pro293Ser) rs1555685965
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.887C>A (p.Pro296His) rs1417632301
NM_005359.5(SMAD4):c.894C>T (p.Pro298=) rs781519690
NM_005359.5(SMAD4):c.904+12_904+13insT rs759701996
NM_005359.5(SMAD4):c.904+14T>C rs200973136
NM_005359.5(SMAD4):c.904+7T>G rs1207550894
NM_005359.5(SMAD4):c.905-19_905-17delTTT rs746847153
NM_005359.5(SMAD4):c.907C>G (p.Pro303Ala) rs1568206575
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.917A>G (p.Asn306Ser) rs730881953
NM_005359.5(SMAD4):c.919G>A (p.Glu307Lys) rs1555686079
NM_005359.5(SMAD4):c.927A>C (p.Ala309=) rs369088915
NM_005359.5(SMAD4):c.940A>G (p.Ile314Val) rs748622028
NM_005359.5(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.5(SMAD4):c.954T>A (p.Pro318=) rs773615487
NM_005359.5(SMAD4):c.955+15A>G rs185228929
NM_005359.5(SMAD4):c.955+19T>C rs372903861
NM_005359.5(SMAD4):c.955+25_955+43del rs1555686098
NM_005359.5(SMAD4):c.955+7G>A rs200386455
NM_005359.5(SMAD4):c.956-19T>C rs1203972910
NM_005359.5(SMAD4):c.956-3T>C rs748283001
NM_005359.5(SMAD4):c.956-4A>G rs1295343500
NM_005359.5(SMAD4):c.956-7C>T rs778959035
NM_005359.5(SMAD4):c.975C>T (p.Ser325=) rs1228827259
NM_005359.5(SMAD4):c.9T>C (p.Asn3=) rs762273127

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