ClinVar Miner

List of variants in gene SMAD4 reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459 0.00001
NM_005359.6(SMAD4):c.885G>A (p.Pro295=) rs772028872 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.1052A>G (p.Asp351Gly) rs1060500741
NM_005359.6(SMAD4):c.1148T>C (p.Ile383Thr) rs377767355
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1269A>C (p.Gly423=) rs1052676207
NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.1590C>G (p.His530Gln) rs935557677
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.680G>T (p.Ser227Ile) rs1909890755
NM_005359.6(SMAD4):c.700A>G (p.Ser234Gly) rs758642067
NM_005359.6(SMAD4):c.721G>A (p.Ala241Thr) rs1599189522
NM_005359.6(SMAD4):c.745_746delinsAG (p.Gln249Arg) rs1599189560
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.6(SMAD4):c.800C>T (p.Thr267Ile) rs1555685955
NM_005359.6(SMAD4):c.822A>C (p.Ala274=) rs1599189780
NM_005359.6(SMAD4):c.822_823delinsCG (p.Pro275Ala) rs1599189787
NM_005359.6(SMAD4):c.823C>G (p.Pro275Ala) rs1599189789
NM_005359.6(SMAD4):c.825A>G (p.Pro275=) rs762166596
NM_005359.6(SMAD4):c.926C>T (p.Ala309Val) rs1599191240

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