ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.-128+759G>A rs9961921 0.00961
NM_005359.6(SMAD4):c.1308+2398T>G rs79208698 0.00836
NM_005359.6(SMAD4):c.-128+3139C>T rs75913646 0.00835
NM_005359.6(SMAD4):c.-127-4838G>A rs145288509 0.00606
NM_005359.6(SMAD4):c.-128+263G>C rs149534722 0.00506
NM_005359.6(SMAD4):c.-127-4835G>A rs146792006 0.00314
NM_005359.6(SMAD4):c.1448-113T>C rs145011178 0.00312
NM_005359.6(SMAD4):c.1308+623C>T rs146176832 0.00277
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.667+54T>C rs371193569 0.00261
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.668-1111A>G rs140846022 0.00189
NM_005359.6(SMAD4):c.454+291T>A rs182939830 0.00180
NM_005359.6(SMAD4):c.-127-3318A>G rs191217645 0.00155
NM_005359.6(SMAD4):c.-128+540A>G rs142196376 0.00137
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_005359.6(SMAD4):c.787+1_788-1del rs1599189646 0.00095
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
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.904+14T>C rs200973136 0.00017
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.747G>C (p.Gln249His) rs372095620 0.00014
NM_005359.6(SMAD4):c.250-15C>T rs375910294 0.00012
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.746A>C (p.Gln249Pro) rs371536364 0.00010
NM_005359.6(SMAD4):c.-127-3T>A rs746840014 0.00009
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005359.6(SMAD4):c.1308+4116C>T rs869312653 0.00007
NM_005359.6(SMAD4):c.249+14G>A rs777811251 0.00006
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.454+20C>T rs758615780 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005359.6(SMAD4):c.-127-135A>C rs181270148 0.00004
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.904+298T>C rs869312649 0.00004
NM_005359.6(SMAD4):c.1215C>T (p.His405=) rs751732234 0.00003
NM_005359.6(SMAD4):c.1447+16A>G rs776280713 0.00003
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=) rs769607309 0.00003
NM_005359.6(SMAD4):c.411A>G (p.Val137=) rs201296880 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_005359.6(SMAD4):c.132A>G (p.Val44=) rs965942065 0.00002
NM_005359.6(SMAD4):c.1611C>T (p.Asp537=) rs369598262 0.00002
NM_005359.6(SMAD4):c.261G>A (p.Arg87=) rs1057520857 0.00002
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.369T>C (p.Cys123=) rs140926102 0.00002
NM_005359.6(SMAD4):c.425-17C>T rs767419859 0.00002
NM_005359.6(SMAD4):c.955+19T>C rs372903861 0.00002
NM_005359.6(SMAD4):c.966T>C (p.Tyr322=) rs1465916558 0.00002
NM_005359.6(SMAD4):c.9T>C (p.Asn3=) rs762273127 0.00002
NM_005359.6(SMAD4):c.-128+1995A>G rs869312651 0.00001
NM_005359.6(SMAD4):c.-128+7G>T rs1490792728 0.00001
NM_005359.6(SMAD4):c.-20A>C rs1057520801 0.00001
NM_005359.6(SMAD4):c.1005A>G (p.Val335=) rs878854762 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.1140-18T>C rs1328617837 0.00001
NM_005359.6(SMAD4):c.1140G>A (p.Arg380=) rs1060504025 0.00001
NM_005359.6(SMAD4):c.1155A>G (p.Lys385=) rs752938351 0.00001
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) rs1406947861 0.00001
NM_005359.6(SMAD4):c.1299A>G (p.Ala433=) rs370558697 0.00001
NM_005359.6(SMAD4):c.1308+10A>G rs1060504024 0.00001
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791 0.00001
NM_005359.6(SMAD4):c.1371A>G (p.Ala457=) rs750933193 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.150A>G (p.Lys50=) rs749503989 0.00001
NM_005359.6(SMAD4):c.160T>C (p.Leu54=) rs1053158497 0.00001
NM_005359.6(SMAD4):c.183A>C (p.Ile61=) rs761937143 0.00001
NM_005359.6(SMAD4):c.231A>G (p.Thr77=) rs760990830 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+11T>C rs757997451 0.00001
NM_005359.6(SMAD4):c.250-14G>A rs1180310843 0.00001
NM_005359.6(SMAD4):c.250-589A>G rs869312650 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_005359.6(SMAD4):c.336T>A (p.Val112=) rs1328102060 0.00001
NM_005359.6(SMAD4):c.366A>G (p.Lys122=) rs1057524633 0.00001
NM_005359.6(SMAD4):c.375T>C (p.Ser125=) rs863224401 0.00001
NM_005359.6(SMAD4):c.387T>C (p.Asn129=) rs150229208 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+165A>G rs182981059 0.00001
NM_005359.6(SMAD4):c.424+19C>A rs1004249434 0.00001
NM_005359.6(SMAD4):c.510A>G (p.Pro170=) rs144226135 0.00001
NM_005359.6(SMAD4):c.519C>T (p.Ser173=) rs778576111 0.00001
NM_005359.6(SMAD4):c.585C>T (p.Tyr195=) rs1316902116 0.00001
NM_005359.6(SMAD4):c.594A>C (p.Pro198=) rs547278031 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.668-11T>G rs1469889617 0.00001
NM_005359.6(SMAD4):c.668-6C>G rs748992694 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.768G>A (p.Gln256=) rs755677513 0.00001
NM_005359.6(SMAD4):c.788-10T>C rs1291526848 0.00001
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) rs763510526 0.00001
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) rs1187796771 0.00001
NM_005359.6(SMAD4):c.870C>T (p.His290=) rs1060504029 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.903C>T (p.Tyr301=) rs746084369 0.00001
NM_005359.6(SMAD4):c.904+7T>G rs1207550894 0.00001
NM_005359.6(SMAD4):c.905-3T>C rs746836038 0.00001
NM_005359.6(SMAD4):c.945C>T (p.Ser315=) rs1408798906 0.00001
NM_005359.6(SMAD4):c.955+15A>G rs185228929 0.00001
NM_005359.6(SMAD4):c.955+7G>A rs200386455 0.00001
NM_005359.6(SMAD4):c.956-19T>C rs1203972910 0.00001
NM_005359.6(SMAD4):c.956-4A>G rs1295343500 0.00001
NM_005359.6(SMAD4):c.975C>T (p.Ser325=) rs1228827259 0.00001
NM_005359.6(SMAD4):c.*13T>C rs1039813805
NM_005359.6(SMAD4):c.*1G>C rs1555687622
NM_005359.6(SMAD4):c.*7_*8del rs1176679575
NM_005359.6(SMAD4):c.-13A>G
NM_005359.6(SMAD4):c.-15G>A rs1555684975
NM_005359.6(SMAD4):c.1008A>G (p.Gly336=) rs1555686461
NM_005359.6(SMAD4):c.1090T>C (p.Leu364=) rs1568208261
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) rs765051479
NM_005359.6(SMAD4):c.1119A>T (p.Thr373=) rs1166695591
NM_005359.6(SMAD4):c.1128T>C (p.Ile376=) rs2144447941
NM_005359.6(SMAD4):c.1139+13T>A rs752709023
NM_005359.6(SMAD4):c.1139+17C>T rs1568208314
NM_005359.6(SMAD4):c.1140-10del rs763877987
NM_005359.6(SMAD4):c.1140-17del rs1555686591
NM_005359.6(SMAD4):c.1140-20A>G rs1910177996
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.1140-6C>T rs1599196889
NM_005359.6(SMAD4):c.1173T>C (p.Cys391=) rs1555686601
NM_005359.6(SMAD4):c.117A>G (p.Ala39=)
NM_005359.6(SMAD4):c.1206T>A (p.Leu402=) rs758696549
NM_005359.6(SMAD4):c.1233T>C (p.Ser411=) rs1910182492
NM_005359.6(SMAD4):c.1287C>T (p.Ile429=) rs1555686621
NM_005359.6(SMAD4):c.1308+11A>C rs773719398
NM_005359.6(SMAD4):c.1308+9C>A rs1057522058
NM_005359.6(SMAD4):c.1309-15G>C rs764436881
NM_005359.6(SMAD4):c.1309-16T>C rs1555687375
NM_005359.6(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.6(SMAD4):c.1326G>A (p.Gln442=) rs1568211178
NM_005359.6(SMAD4):c.1347G>A (p.Gln449=) rs1910478522
NM_005359.6(SMAD4):c.1380C>T (p.Ala460=) rs1910480314
NM_005359.6(SMAD4):c.1389A>T (p.Ala463=) rs1599204151
NM_005359.6(SMAD4):c.1392C>A (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.1443T>C (p.Ala481=) rs1910483120
NM_005359.6(SMAD4):c.1447+17T>C rs1024598107
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.1448-10T>C rs1284568919
NM_005359.6(SMAD4):c.1448-14A>G rs1910517473
NM_005359.6(SMAD4):c.1448-18C>T rs1568211501
NM_005359.6(SMAD4):c.1464T>G (p.Ala488=) rs1555687539
NM_005359.6(SMAD4):c.1473T>C (p.Gly491=) rs1207826883
NM_005359.6(SMAD4):c.1479T>C (p.Asp493=) rs1568211528
NM_005359.6(SMAD4):c.1485T>G (p.Leu495=) rs1555687550
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.6(SMAD4):c.1530A>G (p.Gly510=) rs1568211560
NM_005359.6(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1542A>G (p.Pro514=)
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1606C>T (p.Leu536=) rs587780790
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.6(SMAD4):c.192T>C (p.Asn64=) rs1555685037
NM_005359.6(SMAD4):c.198T>C (p.Ala66=) rs1568203034
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.249+21dup rs1568203059
NM_005359.6(SMAD4):c.264A>G (p.Lys88=) rs1555685155
NM_005359.6(SMAD4):c.27A>G (p.Thr9=) rs1360609728
NM_005359.6(SMAD4):c.285T>C (p.Tyr95=) rs1599182420
NM_005359.6(SMAD4):c.294C>G (p.Leu98=) rs202126703
NM_005359.6(SMAD4):c.315C>T (p.His105=) rs1555685161
NM_005359.6(SMAD4):c.330A>G (p.Lys110=) rs1909619980
NM_005359.6(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.6(SMAD4):c.384G>A (p.Val128=) rs1555685184
NM_005359.6(SMAD4):c.39T>C (p.Asn13=) rs376371717
NM_005359.6(SMAD4):c.424+14G>A rs1057523947
NM_005359.6(SMAD4):c.425-16C>T rs1909636451
NM_005359.6(SMAD4):c.429C>T (p.Leu143=) rs979884322
NM_005359.6(SMAD4):c.432A>C (p.Ser144=) rs1568203600
NM_005359.6(SMAD4):c.454+12G>A rs766144339
NM_005359.6(SMAD4):c.455-1921T>G rs869312652
NM_005359.6(SMAD4):c.455-6A>T rs181178864
NM_005359.6(SMAD4):c.455-8C>T rs1057520412
NM_005359.6(SMAD4):c.45C>T (p.Ala15=) rs1555684991
NM_005359.6(SMAD4):c.480T>C (p.Asp160=) rs1599186813
NM_005359.6(SMAD4):c.483A>G (p.Glu161=) rs786201120
NM_005359.6(SMAD4):c.486T>C (p.Tyr162=) rs1057523970
NM_005359.6(SMAD4):c.528A>C (p.Gly176=) rs2144418503
NM_005359.6(SMAD4):c.573G>A (p.Ser191=) rs761936246
NM_005359.6(SMAD4):c.620A>G (p.Asn207Ser) rs1568205077
NM_005359.6(SMAD4):c.621T>C (p.Asn207=) rs1452122852
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.6(SMAD4):c.645C>T (p.Pro215=) rs1599187076
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala) rs1345146274
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.667+10A>G rs200331016
NM_005359.6(SMAD4):c.667+12A>C rs1555685677
NM_005359.6(SMAD4):c.667+17G>A rs370726274
NM_005359.6(SMAD4):c.667+17G>C rs370726274
NM_005359.6(SMAD4):c.667+20G>T rs547532436
NM_005359.6(SMAD4):c.667+22_667+24del rs753440205
NM_005359.6(SMAD4):c.667+299T>C rs869312648
NM_005359.6(SMAD4):c.668-18G>T rs1909889460
NM_005359.6(SMAD4):c.668-19T>G rs1555685896
NM_005359.6(SMAD4):c.668-6C>T rs748992694
NM_005359.6(SMAD4):c.690G>A (p.Gly230=) rs1599189462
NM_005359.6(SMAD4):c.723A>G (p.Ala241=) rs1599189527
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.750G>A (p.Gln250=) rs1555685922
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.780C>T (p.Tyr260=) rs1568206103
NM_005359.6(SMAD4):c.787+15T>A rs374687785
NM_005359.6(SMAD4):c.787+15T>C rs374687785
NM_005359.6(SMAD4):c.787+15T>G rs374687785
NM_005359.6(SMAD4):c.787+18A>C rs748015964
NM_005359.6(SMAD4):c.787+21dup rs1312566534
NM_005359.6(SMAD4):c.788-14G>T rs769943457
NM_005359.6(SMAD4):c.788-19T>C rs1909897947
NM_005359.6(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.6(SMAD4):c.795T>C (p.Thr265=) rs1568206153
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn) rs1343555503
NM_005359.6(SMAD4):c.816G>A (p.Arg272=) rs1231028123
NM_005359.6(SMAD4):c.825A>C (p.Pro275=) rs762166596
NM_005359.6(SMAD4):c.828C>T (p.Tyr276=) rs1909901558
NM_005359.6(SMAD4):c.904+11G>T rs769952679
NM_005359.6(SMAD4):c.904+16dup rs759701996
NM_005359.6(SMAD4):c.904+17G>A rs762952272
NM_005359.6(SMAD4):c.905-13G>A rs1488791339
NM_005359.6(SMAD4):c.905-19_905-17del rs746847153
NM_005359.6(SMAD4):c.905-9T>C rs1064795175
NM_005359.6(SMAD4):c.909T>C (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.6(SMAD4):c.927A>C (p.Ala309=) rs369088915
NM_005359.6(SMAD4):c.927A>G (p.Ala309=) rs369088915
NM_005359.6(SMAD4):c.954T>A (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.955+25_955+43del rs1555686098
NM_005359.6(SMAD4):c.956-7C>T rs778959035
NM_005359.6(SMAD4):c.963G>A (p.Glu321=) rs1057523565

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