ClinVar Miner

List of variants in gene SMAD4 studied for not specified

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Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_005359.6(SMAD4):c.905-52A>G rs948589 0.05280
NM_005359.6(SMAD4):c.956-31G>A rs11875522 0.04946
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_005359.6(SMAD4):c.455-43A>T rs149541014 0.00759
NM_005359.6(SMAD4):c.1308+33_1308+34del rs201683280 0.00695
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.249+24A>G rs77389132 0.00278
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
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.1140-10T>C rs186332162 0.00221
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_005359.6(SMAD4):c.904+29A>T rs543382977 0.00090
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.-148C>T rs896378489 0.00036
NM_005359.6(SMAD4):c.1448-33T>A rs368121123 0.00036
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.1448-49G>C rs375313666 0.00025
NM_005359.6(SMAD4):c.904+14T>C rs200973136 0.00017
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) rs534355764 0.00011
NM_005359.6(SMAD4):c.*12G>A rs148687037 0.00010
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.454+38G>C rs201924714 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.667+9T>C rs776523203 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.947A>G (p.Asn316Ser) rs377119288 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_005359.6(SMAD4):c.249+16G>A rs751563004 0.00004
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.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.956-3T>C rs748283001 0.00003
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.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005359.6(SMAD4):c.9T>C (p.Asn3=) rs762273127 0.00002
NM_005359.6(SMAD4):c.-128+12A>G rs886053891 0.00001
NM_005359.6(SMAD4):c.-133G>A rs1012501055 0.00001
NM_005359.6(SMAD4):c.-135G>A rs1057524686 0.00001
NM_005359.6(SMAD4):c.-20A>C rs1057520801 0.00001
NM_005359.6(SMAD4):c.-28T>C rs762899211 0.00001
NM_005359.6(SMAD4):c.-3C>G rs886053892 0.00001
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831 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.1155A>G (p.Lys385=) rs752938351 0.00001
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791 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.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+13_249+14insAT rs1467195416 0.00001
NM_005359.6(SMAD4):c.249+7C>T rs754207663 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.424+19C>A rs1004249434 0.00001
NM_005359.6(SMAD4):c.424+6T>C rs771456293 0.00001
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser) rs751763157 0.00001
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) rs756675590 0.00001
NM_005359.6(SMAD4):c.510A>G (p.Pro170=) rs144226135 0.00001
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) rs770798845 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) rs1397172791 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) rs1555685910 0.00001
NM_005359.6(SMAD4):c.788-31C>T rs1342126153 0.00001
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) rs1187796771 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.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.955+15A>G rs185228929 0.00001
NM_005359.6(SMAD4):c.956-17C>T rs1315017766 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.-109C>G rs757567812
NM_005359.6(SMAD4):c.-11A>C rs1057522345
NM_005359.6(SMAD4):c.-128+16_-128+18delinsTT rs1064794420
NM_005359.6(SMAD4):c.-128+19del rs1555683797
NM_005359.6(SMAD4):c.-15G>A rs1555684975
NM_005359.6(SMAD4):c.-39T>A rs1057523754
NM_005359.6(SMAD4):c.-53_-48del rs1064795555
NM_005359.6(SMAD4):c.-5_3del (p.Met1fs) rs2144400060
NM_005359.6(SMAD4):c.1014A>G (p.Thr338=) rs1057520443
NM_005359.6(SMAD4):c.1052A>G (p.Asp351Gly) rs1060500741
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1139+44T>C rs28539779
NM_005359.6(SMAD4):c.1140-10del rs763877987
NM_005359.6(SMAD4):c.1140-16C>A rs1057521669
NM_005359.6(SMAD4):c.1140-26A>C
NM_005359.6(SMAD4):c.1140-36_1140-19del rs1064795613
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.1140-4T>C rs1057521045
NM_005359.6(SMAD4):c.126T>C (p.Ser42=) rs1057523114
NM_005359.6(SMAD4):c.1308+9C>A rs1057522058
NM_005359.6(SMAD4):c.1309-48G>A rs1452486660
NM_005359.6(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.6(SMAD4):c.1311C>T (p.Val437=)
NM_005359.6(SMAD4):c.1320G>A (p.Leu440=) rs1599204046
NM_005359.6(SMAD4):c.1395G>A (p.Val465=) rs1057521215
NM_005359.6(SMAD4):c.1409C>G (p.Pro470Arg) rs1599204186
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.1448-3T>A rs1555687536
NM_005359.6(SMAD4):c.1473T>C (p.Gly491=) rs1207826883
NM_005359.6(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1566T>G (p.Pro522=) rs1555687593
NM_005359.6(SMAD4):c.1585T>C (p.Leu529=) rs1555687596
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp) rs766833269
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.1641C>T (p.Asp547=) rs1057523337
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.250-41C>T
NM_005359.6(SMAD4):c.250-41_250-42delinsTT
NM_005359.6(SMAD4):c.250-42G>T
NM_005359.6(SMAD4):c.279G>C (p.Val93=) rs1568203425
NM_005359.6(SMAD4):c.31A>T (p.Thr11Ser) rs587780791
NM_005359.6(SMAD4):c.327A>G (p.Leu109=) rs1555685165
NM_005359.6(SMAD4):c.339A>G (p.Lys113=) rs1568203460
NM_005359.6(SMAD4):c.378C>T (p.Val126=) rs1555685181
NM_005359.6(SMAD4):c.384G>A (p.Val128=) rs1555685184
NM_005359.6(SMAD4):c.388C>T (p.Pro130Ser) rs1555685186
NM_005359.6(SMAD4):c.424+12_424+13del rs749922210
NM_005359.6(SMAD4):c.424+14G>A rs1057523947
NM_005359.6(SMAD4):c.454+23C>T
NM_005359.6(SMAD4):c.455-8C>T rs1057520412
NM_005359.6(SMAD4):c.457C>G (p.Pro153Ala) rs751763157
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser) rs1555684993
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.60G>A (p.Val20=) rs1057520442
NM_005359.6(SMAD4):c.63T>C (p.His21=) rs1555685004
NM_005359.6(SMAD4):c.667+17G>A rs370726274
NM_005359.6(SMAD4):c.667+20G>T rs547532436
NM_005359.6(SMAD4):c.667+30A>G
NM_005359.6(SMAD4):c.668-16C>A rs775498596
NM_005359.6(SMAD4):c.668-26A>G
NM_005359.6(SMAD4):c.684A>C (p.Ile228=) rs1555685906
NM_005359.6(SMAD4):c.699T>C (p.His233=) rs367964910
NM_005359.6(SMAD4):c.741A>G (p.Gly247=) rs1555685919
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.787+15T>C rs374687785
NM_005359.6(SMAD4):c.787+15T>G rs374687785
NM_005359.6(SMAD4):c.787+8C>T rs749225244
NM_005359.6(SMAD4):c.788-12del rs1064794372
NM_005359.6(SMAD4):c.788-14G>T rs769943457
NM_005359.6(SMAD4):c.788-6T>C rs1909898384
NM_005359.6(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.6(SMAD4):c.798C>T (p.Thr266=) rs876660662
NM_005359.6(SMAD4):c.800C>T (p.Thr267Ile) rs1555685955
NM_005359.6(SMAD4):c.837T>C (p.Asn279=) rs1555685961
NM_005359.6(SMAD4):c.849C>A (p.His283Gln) rs2144428968
NM_005359.6(SMAD4):c.895G>A (p.Gly299Arg) rs1330888967
NM_005359.6(SMAD4):c.904+36_904+37insAT
NM_005359.6(SMAD4):c.904+37T>G
NM_005359.6(SMAD4):c.904+43_904+45dup rs386387676
NM_005359.6(SMAD4):c.904+44_904+45del rs386387676
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676
NM_005359.6(SMAD4):c.904+49A>T rs754541078
NM_005359.6(SMAD4):c.905-19_905-17del rs746847153
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.926C>T (p.Ala309Val) rs1599191240
NM_005359.6(SMAD4):c.955+15_955+17del rs1555686095
NM_005359.6(SMAD4):c.955+6T>C
NM_005359.6(SMAD4):c.956-5T>C rs1057521660
NM_005359.6(SMAD4):c.963G>A (p.Glu321=) rs1057523565

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