ClinVar Miner

List of variants in gene SMAD4 reported as likely pathogenic for digestive system disorder

Included ClinVar conditions (607):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NC_000018.9:g.(48556994_48573289)_48573471dup
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys) rs377767346
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_005359.6(SMAD4):c.1087T>G (p.Cys363Gly) rs377767348
NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.6(SMAD4):c.1091T>G (p.Leu364Trp) rs377767350
NM_005359.6(SMAD4):c.1139+1G>A rs377767354
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1140-2A>C rs1568208715
NM_005359.6(SMAD4):c.1148T>C (p.Ile383Thr) rs377767355
NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg) rs377767355
NM_005359.6(SMAD4):c.1149A>G (p.Ile383Met) rs2144451738
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys) rs1057519962
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala) rs121912580
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val) rs121912580
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1308+2T>G rs1555686624
NM_005359.6(SMAD4):c.1309-1G>A rs1555687377
NM_005359.6(SMAD4):c.1309-2A>G
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005359.6(SMAD4):c.1392del (p.Val465fs) rs1910480814
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.1515del (p.Phe505fs) rs864622252
NM_005359.6(SMAD4):c.1515dup (p.Val506fs)
NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) rs1555687572
NM_005359.6(SMAD4):c.1523del (p.Gly508fs) rs2144478656
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1572G>T (p.Trp524Cys)
NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro) rs377767382
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_005359.6(SMAD4):c.1612G>T (p.Glu538Ter) rs1568211615
NM_005359.6(SMAD4):c.1659A>C (p.Ter553Cys)
NM_005359.6(SMAD4):c.249+1G>T rs2144402036
NM_005359.6(SMAD4):c.250-1G>C rs1555685149
NM_005359.6(SMAD4):c.250-1G>T
NM_005359.6(SMAD4):c.250-2A>G rs1555685142
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.6(SMAD4):c.369del (p.Cys123fs)
NM_005359.6(SMAD4):c.424+1G>A rs377767386
NM_005359.6(SMAD4):c.424+2T>C
NM_005359.6(SMAD4):c.425-6A>G rs377767327
NM_005359.6(SMAD4):c.454+2T>C rs1555685248
NM_005359.6(SMAD4):c.455-2A>T
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter) rs1909795990
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.585C>A (p.Tyr195Ter)
NM_005359.6(SMAD4):c.787+1G>A rs1568206107
NM_005359.6(SMAD4):c.787+2T>C rs1909895611
NM_005359.6(SMAD4):c.788-1G>A
NM_005359.6(SMAD4):c.788-1G>C
NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer) rs1909899495
NM_005359.6(SMAD4):c.894del (p.Gly299fs) rs2144429392
NM_005359.6(SMAD4):c.905-1G>T rs1555686070
NM_005359.6(SMAD4):c.955+1G>A
NM_005359.6(SMAD4):c.955+1del rs1555686086

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