ClinVar Miner

List of variants in gene SMAD4 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
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.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
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.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.746A>C (p.Gln249Pro) rs371536364 0.00010
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.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.1461T>A (p.Ala487=) rs769607309 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.261G>A (p.Arg87=) rs1057520857 0.00002
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.249+20T>C rs780723246 0.00001
NM_005359.6(SMAD4):c.525A>G (p.Glu175=) rs368528856 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) rs765051479
NM_005359.6(SMAD4):c.1139+278dup
NM_005359.6(SMAD4):c.1641C>T (p.Asp547=) rs1057523337
NM_005359.6(SMAD4):c.189A>G (p.Thr63=) rs1555685033
NM_005359.6(SMAD4):c.330A>G (p.Lys110=) rs1909619980
NM_005359.6(SMAD4):c.444G>T (p.Leu148=) rs2144407664
NM_005359.6(SMAD4):c.453T>C (p.Asn151=)
NM_005359.6(SMAD4):c.455-4A>G rs1599186761
NM_005359.6(SMAD4):c.486T>C (p.Tyr162=) rs1057523970
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.6(SMAD4):c.667+10A>G rs200331016
NM_005359.6(SMAD4):c.909T>C (p.Pro303=) rs141149381

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