ClinVar Miner

List of variants in gene SMAD4 studied for not specified

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Gene type:
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Total variants: 130
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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.-109C>G rs757567812
NM_005359.5(SMAD4):c.-11A>C rs1057522345
NM_005359.5(SMAD4):c.-127-3T>A rs746840014
NM_005359.5(SMAD4):c.-128+12A>G rs886053891
NM_005359.5(SMAD4):c.-128+16_-128+18delCCCinsTT rs1064794420
NM_005359.5(SMAD4):c.-128+19delC rs1555683797
NM_005359.5(SMAD4):c.-133G>A rs1012501055
NM_005359.5(SMAD4):c.-135G>A rs1057524686
NM_005359.5(SMAD4):c.-148C>T rs896378489
NM_005359.5(SMAD4):c.-15G>A rs1555684975
NM_005359.5(SMAD4):c.-20A>C rs1057520801
NM_005359.5(SMAD4):c.-28T>C rs762899211
NM_005359.5(SMAD4):c.-39T>A rs1057523754
NM_005359.5(SMAD4):c.-3C>G rs886053892
NM_005359.5(SMAD4):c.-53_-48delAATTGC rs1064795555
NM_005359.5(SMAD4):c.1014A>G (p.Thr338=) rs1057520443
NM_005359.5(SMAD4):c.102A>G (p.Thr34=) rs146104321
NM_005359.5(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
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.1098A>G (p.Gln366=) rs990054989
NM_005359.5(SMAD4):c.1140-10T>C rs186332162
NM_005359.5(SMAD4):c.1140-10delT rs763877987
NM_005359.5(SMAD4):c.1140-16C>A rs1057521669
NM_005359.5(SMAD4):c.1140-36_1140-19del18 rs1064795613
NM_005359.5(SMAD4):c.1140-3A>C rs956212866
NM_005359.5(SMAD4):c.1140-4T>C rs1057521045
NM_005359.5(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.5(SMAD4):c.1236C>T (p.Tyr412=) rs121912577
NM_005359.5(SMAD4):c.126T>C (p.Ser42=) rs1057523114
NM_005359.5(SMAD4):c.1308+9C>A rs1057522058
NM_005359.5(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.5(SMAD4):c.132A>G (p.Val44=) rs965942065
NM_005359.5(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.5(SMAD4):c.1395G>A (p.Val465=) rs1057521215
NM_005359.5(SMAD4):c.1422A>C (p.Ser474=) rs786201261
NM_005359.5(SMAD4):c.1447+9G>A rs878854766
NM_005359.5(SMAD4):c.1448-10T>C rs1284568919
NM_005359.5(SMAD4):c.1448-3T>A rs1555687536
NM_005359.5(SMAD4):c.144G>A (p.Lys48=) rs1057523437
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.1492T>C (p.Leu498=) rs1057520520
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.1566T>G (p.Pro522=) rs1555687593
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1585T>C (p.Leu529=) rs1555687596
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.1641C>T (p.Asp547=) rs1057523337
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.228A>G (p.Arg76=) rs587780556
NM_005359.5(SMAD4):c.249+10A>C rs752243771
NM_005359.5(SMAD4):c.249+24A>G rs77389132
NM_005359.5(SMAD4):c.250-15C>T rs375910294
NM_005359.5(SMAD4):c.261G>A (p.Arg87=) rs1057520857
NM_005359.5(SMAD4):c.279G>C (p.Val93=) rs1568203425
NM_005359.5(SMAD4):c.294C>T (p.Leu98=) rs202126703
NM_005359.5(SMAD4):c.327A>G (p.Leu109=) rs1555685165
NM_005359.5(SMAD4):c.339A>G (p.Lys113=) rs1568203460
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.378C>T (p.Val126=) rs1555685181
NM_005359.5(SMAD4):c.384G>A (p.Val128=) rs1555685184
NM_005359.5(SMAD4):c.387T>C (p.Asn129=) rs150229208
NM_005359.5(SMAD4):c.388C>T (p.Pro130Ser) rs1555685186
NM_005359.5(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.5(SMAD4):c.411A>G (p.Val137=) rs201296880
NM_005359.5(SMAD4):c.424+12_424+13delTT rs749922210
NM_005359.5(SMAD4):c.424+14G>A rs1057523947
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.455-43A>T rs149541014
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.455-8C>T rs1057520412
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.486T>C (p.Tyr162=) rs1057523970
NM_005359.5(SMAD4):c.510A>G (p.Pro170=) rs144226135
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.5(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.5(SMAD4):c.60G>A (p.Val20=) rs1057520442
NM_005359.5(SMAD4):c.63T>C (p.His21=) rs1555685004
NM_005359.5(SMAD4):c.667+17G>A rs370726274
NM_005359.5(SMAD4):c.667+20G>T rs547532436
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.667+9T>C rs776523203
NM_005359.5(SMAD4):c.668-16C>A rs775498596
NM_005359.5(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005359.5(SMAD4):c.698A>G (p.His233Arg) rs1555685910
NM_005359.5(SMAD4):c.699T>C (p.His233=) rs367964910
NM_005359.5(SMAD4):c.741A>G (p.Gly247=) rs1555685919
NM_005359.5(SMAD4):c.787+15T>C rs374687785
NM_005359.5(SMAD4):c.787+15T>G rs374687785
NM_005359.5(SMAD4):c.787+8C>T rs749225244
NM_005359.5(SMAD4):c.788-12delC rs1064794372
NM_005359.5(SMAD4):c.788-14G>T rs769943457
NM_005359.5(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.5(SMAD4):c.800C>T (p.Thr267Ile) rs1555685955
NM_005359.5(SMAD4):c.837T>C (p.Asn279=) rs1555685961
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.876G>A (p.Pro292=) rs753358186
NM_005359.5(SMAD4):c.880A>G (p.Met294Val) rs7238500
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.904+14T>C rs200973136
NM_005359.5(SMAD4):c.904+29A>T rs543382977
NM_005359.5(SMAD4):c.904+45del rs386387676
NM_005359.5(SMAD4):c.904+45dup rs386387676
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.917A>G (p.Asn306Ser) rs730881953
NM_005359.5(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.5(SMAD4):c.955+15A>G rs185228929
NM_005359.5(SMAD4):c.955+15_955+17delAAA rs1555686095
NM_005359.5(SMAD4):c.956-5T>C rs1057521660
NM_005359.5(SMAD4):c.963G>A (p.Glu321=) rs1057523565

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