ClinVar Miner

List of variants in gene SMAD4 reported as likely benign for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP
NM_005359.5(SMAD4):c.*12G>A rs148687037
NM_005359.5(SMAD4):c.*13T>C rs1039813805
NM_005359.5(SMAD4):c.*1G>C rs1555687622
NM_005359.5(SMAD4):c.-127-135A>C rs181270148
NM_005359.5(SMAD4):c.-127-3318A>G rs191217645
NM_005359.5(SMAD4):c.-127-4835G>A rs146792006
NM_005359.5(SMAD4):c.-127-4838G>A rs145288509
NM_005359.5(SMAD4):c.-128+1995A>G rs869312651
NM_005359.5(SMAD4):c.-128+263G>C rs149534722
NM_005359.5(SMAD4):c.-128+3139C>T rs75913646
NM_005359.5(SMAD4):c.-128+540A>G rs142196376
NM_005359.5(SMAD4):c.-128+759G>A rs9961921
NM_005359.5(SMAD4):c.-15G>A rs1555684975
NM_005359.5(SMAD4):c.-20A>C rs1057520801
NM_005359.5(SMAD4):c.1005A>G (p.Val335=) rs878854762
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.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.1139+13T>A rs752709023
NM_005359.5(SMAD4):c.1139+17C>T rs1568208314
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.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.1248A>G (p.Arg416=) rs786202472
NM_005359.5(SMAD4):c.1254T>G (p.Ala418=) rs1186154913
NM_005359.5(SMAD4):c.1263A>G (p.Ala421=) rs1406947861
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+2398T>G rs79208698
NM_005359.5(SMAD4):c.1308+4116C>T rs869312653
NM_005359.5(SMAD4):c.1308+623C>T rs146176832
NM_005359.5(SMAD4):c.1308+9C>A rs1057522058
NM_005359.5(SMAD4):c.1309-16T>C rs1555687375
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.1353G>A (p.Ala451=) rs1441353791
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.1422A>C (p.Ser474=) rs786201261
NM_005359.5(SMAD4):c.1440A>G (p.Pro480=) rs1555687392
NM_005359.5(SMAD4):c.1447+16A>G rs776280713
NM_005359.5(SMAD4):c.1447+17T>C rs1024598107
NM_005359.5(SMAD4):c.1448-113T>C rs145011178
NM_005359.5(SMAD4):c.1448-18C>T rs1568211501
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.1473T>C (p.Gly491=) rs1207826883
NM_005359.5(SMAD4):c.1479T>C (p.Asp493=) rs1568211528
NM_005359.5(SMAD4):c.147G>A (p.Glu49=) rs1555685024
NM_005359.5(SMAD4):c.1485T>G (p.Leu495=) rs1555687550
NM_005359.5(SMAD4):c.1492T>C (p.Leu498=) rs1057520520
NM_005359.5(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.5(SMAD4):c.150A>G (p.Lys50=) rs749503989
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.1554C>T (p.Ile518=) rs876660438
NM_005359.5(SMAD4):c.1596C>T (p.Ala532=) rs765606080
NM_005359.5(SMAD4):c.1608A>G (p.Leu536=) rs753128184
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.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.177A>G (p.Thr59=) rs774480995
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.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.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.250-589A>G rs869312650
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.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.298A>C (p.Arg100=) rs751154230
NM_005359.5(SMAD4):c.315C>T (p.His105=) rs1555685161
NM_005359.5(SMAD4):c.325C>T (p.Leu109=) rs1248541873
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.372T>C (p.Asp124=) rs1555685178
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.399C>T (p.Tyr133=) rs779069779
NM_005359.5(SMAD4):c.39T>C (p.Asn13=) rs376371717
NM_005359.5(SMAD4):c.424+165A>G rs182981059
NM_005359.5(SMAD4):c.424+19C>A rs1004249434
NM_005359.5(SMAD4):c.425-17C>T rs767419859
NM_005359.5(SMAD4):c.432A>C (p.Ser144=) rs1568203600
NM_005359.5(SMAD4):c.454+20C>T rs758615780
NM_005359.5(SMAD4):c.454+291T>A rs182939830
NM_005359.5(SMAD4):c.455-1921T>G rs869312652
NM_005359.5(SMAD4):c.45C>T (p.Ala15=) rs1555684991
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.507G>A (p.Gln169=) rs876659426
NM_005359.5(SMAD4):c.510A>G (p.Pro170=) rs144226135
NM_005359.5(SMAD4):c.516G>A (p.Leu172=) rs1392368498
NM_005359.5(SMAD4):c.519C>T (p.Ser173=) rs778576111
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
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.582A>G (p.Thr194=) rs145805120
NM_005359.5(SMAD4):c.585C>T (p.Tyr195=) rs1316902116
NM_005359.5(SMAD4):c.591C>G (p.Thr197=) rs1464524083
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.620A>G (p.Asn207Ser) rs1568205077
NM_005359.5(SMAD4):c.633T>C (p.Thr211=) rs1060504027
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+299T>C rs869312648
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.667+54T>C rs371193569
NM_005359.5(SMAD4):c.667+9T>C rs776523203
NM_005359.5(SMAD4):c.668-1111A>G rs140846022
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.693C>T (p.Gly231=) rs765597059
NM_005359.5(SMAD4):c.750G>A (p.Gln250=) rs1555685922
NM_005359.5(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.5(SMAD4):c.75C>T (p.Cys25=) rs1555685008
NM_005359.5(SMAD4):c.768G>A (p.Gln256=) rs755677513
NM_005359.5(SMAD4):c.777T>C (p.Thr259=) rs1555685935
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+21dup rs1312566534
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.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.876G>A (p.Pro292=) rs753358186
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.904+12_904+13insT rs759701996
NM_005359.5(SMAD4):c.904+14T>C rs200973136
NM_005359.5(SMAD4):c.904+298T>C rs869312649
NM_005359.5(SMAD4):c.904+7T>G rs1207550894
NM_005359.5(SMAD4):c.905-19_905-17delTTT rs746847153
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.921G>A (p.Glu307=) rs876660255
NM_005359.5(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.5(SMAD4):c.927A>C (p.Ala309=) rs369088915
NM_005359.5(SMAD4):c.939C>T (p.Pro313=) rs1305282354
NM_005359.5(SMAD4):c.945C>T (p.Ser315=) rs1408798906
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.956-4A>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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