ClinVar Miner

List of variants in gene SMAD3 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val) rs191612061 0.00004
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser) rs140880290 0.00003
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val) rs370394986 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu) rs772510704 0.00003
NM_005902.4(SMAD3):c.981C>G (p.His327Gln) rs780274581 0.00003
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val) rs779602560 0.00002
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) rs770798158 0.00002
NM_005902.4(SMAD3):c.400+5G>T rs766829176 0.00002
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg) rs755924969 0.00002
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile) rs773543026 0.00002
NM_005902.4(SMAD3):c.*4C>T rs1252748287 0.00001
NM_005902.4(SMAD3):c.*6del rs772778568 0.00001
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 0.00001
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp) rs745387614 0.00001
NM_005902.4(SMAD3):c.207-3C>A rs757772685 0.00001
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296 0.00001
NM_005902.4(SMAD3):c.355G>A (p.Glu119Lys) rs1165259401 0.00001
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln) rs750982529 0.00001
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala) rs863223767 0.00001
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys) rs1253901433 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr) rs548756379 0.00001
NM_005902.4(SMAD3):c.575G>C (p.Ser192Thr) rs1264997614 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr) rs760091844 0.00001
NM_005902.4(SMAD3):c.607+5G>T rs772419612 0.00001
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser) rs150682850 0.00001
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr) rs1962721856 0.00001
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe) rs886038567 0.00001
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr) rs1348033858 0.00001
NM_005902.4(SMAD3):c.1045G>A (p.Ala349Thr) rs1963249175
NM_005902.4(SMAD3):c.1106T>A (p.Met369Lys) rs1294653592
NM_005902.4(SMAD3):c.1144G>A (p.Ala382Thr)
NM_005902.4(SMAD3):c.1154+4A>G rs1963253277
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His) rs762012589
NM_005902.4(SMAD3):c.1277A>T (p.Ter426Leu) rs1555414505
NM_005902.4(SMAD3):c.145G>T (p.Asp49Tyr) rs1959914506
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys) rs1959915488
NM_005902.4(SMAD3):c.292C>T (p.His98Tyr) rs1962536933
NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)
NM_005902.4(SMAD3):c.309_311delinsGCA (p.Arg104Gln) rs2140294017
NM_005902.4(SMAD3):c.316A>T (p.Met106Leu)
NM_005902.4(SMAD3):c.322C>A (p.Leu108Met) rs1595941782
NM_005902.4(SMAD3):c.340A>G (p.Asn114Asp) rs2140294134
NM_005902.4(SMAD3):c.384G>C (p.Gln128His) rs1962541593
NM_005902.4(SMAD3):c.401-11C>A rs1962548669
NM_005902.4(SMAD3):c.445G>A (p.Glu149Lys) rs1429991069
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val) rs2140188791
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser) rs1254152984
NM_005902.4(SMAD3):c.532+5G>T rs1962555390
NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg) rs1959912294
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly) rs1416321033
NM_005902.4(SMAD3):c.608G>A (p.Gly203Asp) rs1962720069
NM_005902.4(SMAD3):c.625C>A (p.Pro209Thr)
NM_005902.4(SMAD3):c.626C>T (p.Pro209Leu) rs1209899173
NM_005902.4(SMAD3):c.634A>T (p.Met212Leu) rs1962721215
NM_005902.4(SMAD3):c.644C>G (p.Ala215Gly) rs376353913
NM_005902.4(SMAD3):c.644C>T (p.Ala215Val) rs376353913
NM_005902.4(SMAD3):c.652A>G (p.Asn218Asp) rs1962722777
NM_005902.4(SMAD3):c.658+4A>C
NM_005902.4(SMAD3):c.658+5G>A rs1962723153
NM_005902.4(SMAD3):c.659-12del
NM_005902.4(SMAD3):c.661C>G (p.Leu221Val) rs1566999319
NM_005902.4(SMAD3):c.676T>C (p.Tyr226His) rs1963044923
NM_005902.4(SMAD3):c.679T>G (p.Cys227Gly) rs1963045127
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu) rs1232187684
NM_005902.4(SMAD3):c.728G>A (p.Arg243His) rs863223736
NM_005902.4(SMAD3):c.763A>T (p.Met255Leu)
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser) rs1433790279
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val) rs1963053530
NM_005902.4(SMAD3):c.871+5G>A rs1963055122
NM_005902.4(SMAD3):c.872-15C>A rs747102986
NM_005902.4(SMAD3):c.880G>A (p.Val294Met) rs863223744
NM_005902.4(SMAD3):c.884G>A (p.Arg295Gln) rs772730200
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552

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