ClinVar Miner

List of variants in gene SMAD4 reported as benign

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.1140-256G>A rs2509999 0.98692
NM_005359.6(SMAD4):c.1447+257T>C rs2298617 0.39454
NM_005359.6(SMAD4):c.-127-650C>T rs12455792 0.38992
NM_005359.6(SMAD4):c.667+238C>A rs8096092 0.38922
NM_005359.6(SMAD4):c.424+159T>C rs2276163 0.38899
NM_005359.6(SMAD4):c.-127-306G>A rs67325153 0.31822
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_005359.6(SMAD4):c.*5535A>G rs75712226 0.07867
NM_005359.6(SMAD4):c.955+58C>T rs948588 0.05406
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.*6423G>C rs2282544 0.04514
NM_005359.6(SMAD4):c.*685A>C rs16952798 0.03369
NM_005359.6(SMAD4):c.249+215A>G rs16952779 0.03219
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_005359.6(SMAD4):c.249+300del rs139940554 0.02271
NM_005359.6(SMAD4):c.-127-46C>T rs77337149 0.01750
NM_005359.6(SMAD4):c.*5170C>T rs117142232 0.01554
NM_005359.6(SMAD4):c.*5083G>A rs145596898 0.01488
NM_005359.6(SMAD4):c.*2122A>G rs149424787 0.01125
NM_005359.6(SMAD4):c.*6513C>T rs76020793 0.00838
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.*3398A>G rs182735651 0.00515
NM_005359.6(SMAD4):c.*3662C>T rs114852346 0.00503
NM_005359.6(SMAD4):c.*1820T>G rs141309481 0.00426
NM_005359.6(SMAD4):c.*5259A>T rs139414609 0.00320
NM_005359.6(SMAD4):c.*2796G>T rs4939651 0.00278
NM_005359.6(SMAD4):c.249+24A>G rs77389132 0.00278
NM_005359.6(SMAD4):c.*5419T>C rs146551171 0.00277
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.*2989A>G rs139526377 0.00208
NM_005359.6(SMAD4):c.*4748C>T rs375580807 0.00175
NM_005359.6(SMAD4):c.*2488T>A rs148190627 0.00169
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.*2914C>T rs147352474 0.00075
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005359.6(SMAD4):c.*6009G>C rs181250637 0.00070
NM_005359.6(SMAD4):c.*2361A>G rs143842829 0.00061
NM_005359.6(SMAD4):c.*5627G>A rs185010226 0.00055
NM_005359.6(SMAD4):c.*4378T>G rs540039847 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.*6492A>T rs569819237 0.00049
NM_005359.6(SMAD4):c.*6522C>T rs183472455 0.00047
NM_005359.6(SMAD4):c.*4862A>G rs139595540 0.00045
NM_005359.6(SMAD4):c.*412A>G rs28403611 0.00036
NM_005359.6(SMAD4):c.-148C>T rs896378489 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.*1659C>A rs574896468 0.00026
NM_005359.6(SMAD4):c.*5801T>C rs577928234 0.00021
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.*2353C>T rs550660083 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.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.*1067G>A rs542839921 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.-127-14T>C rs559274401 0.00004
NM_005359.6(SMAD4):c.-401C>T rs555375675 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 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.1215C>T (p.His405=) rs751732234 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.*5080A>G rs532965680 0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser) rs138386557 0.00002
NM_005359.6(SMAD4):c.*30A>C rs767288576 0.00001
NM_005359.6(SMAD4):c.*334C>T rs534790830 0.00001
NM_005359.6(SMAD4):c.*4643T>C rs369040052 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) rs750355699 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.955+7G>A rs200386455 0.00001
NM_005359.6(SMAD4):c.*1864C>A rs561442548
NM_005359.6(SMAD4):c.*1866A>G rs4940037
NM_005359.6(SMAD4):c.*5631AC[3] rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_005359.6(SMAD4):c.*5994A>C rs3819122
NM_005359.6(SMAD4):c.-128+89CGG[8] rs533316618
NM_005359.6(SMAD4):c.1139+446del rs34861220
NM_005359.6(SMAD4):c.1139+44T>C rs28539779
NM_005359.6(SMAD4):c.1140-10del rs763877987
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1308+96_1308+102del rs148310488
NM_005359.6(SMAD4):c.1309-2del
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.249+21dup rs1568203059
NM_005359.6(SMAD4):c.250-5del
NM_005359.6(SMAD4):c.454+242del rs11287965
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.787+21dup rs1312566534
NM_005359.6(SMAD4):c.904+16dup rs759701996
NM_005359.6(SMAD4):c.904+35T>A
NM_005359.6(SMAD4):c.904+43_904+45dup rs386387676
NM_005359.6(SMAD4):c.904+44_904+45dup rs386387676
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381

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