ClinVar Miner

List of variants in gene SMAD3 reported as uncertain significance by Ambry Genetics

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Total variants: 77
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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.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.1009+5A>C rs772995932 0.00001
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn) rs1555405116 0.00001
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln) rs750982529 0.00001
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr) rs760091844 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.101C>A (p.Ala34Glu)
NM_005902.4(SMAD3):c.1084G>C (p.Ala362Pro)
NM_005902.4(SMAD3):c.1099A>C (p.Thr367Pro)
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys) rs1555414240
NM_005902.4(SMAD3):c.1124G>A (p.Ser375Asn) rs1232656160
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val) rs1963252519
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1154+3C>G
NM_005902.4(SMAD3):c.1178C>T (p.Pro393Leu)
NM_005902.4(SMAD3):c.1230C>A (p.Val410=)
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg) rs886038961
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu) rs1963334413
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro)
NM_005902.4(SMAD3):c.191G>A (p.Cys64Tyr)
NM_005902.4(SMAD3):c.206+3G>T rs1265081565
NM_005902.4(SMAD3):c.206+4G>A
NM_005902.4(SMAD3):c.214G>C (p.Asp72His)
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.253C>T (p.His85Tyr)
NM_005902.4(SMAD3):c.262T>C (p.Tyr88His)
NM_005902.4(SMAD3):c.263A>G (p.Tyr88Cys) rs1595941635
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.269G>C (p.Arg90Pro)
NM_005902.4(SMAD3):c.310C>T (p.Arg104Trp) rs1360614387
NM_005902.4(SMAD3):c.311G>A (p.Arg104Gln)
NM_005902.4(SMAD3):c.313G>T (p.Ala105Ser)
NM_005902.4(SMAD3):c.313_314delinsTT (p.Ala105Phe)
NM_005902.4(SMAD3):c.314C>T (p.Ala105Val)
NM_005902.4(SMAD3):c.316A>T (p.Met106Leu)
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg) rs1962538901
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) rs387906854
NM_005902.4(SMAD3):c.340A>G (p.Asn114Asp) rs2140294134
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.376C>T (p.His126Tyr) rs886038771
NM_005902.4(SMAD3):c.436_447del (p.Ile146_Glu149del) rs1555412124
NM_005902.4(SMAD3):c.455C>G (p.Pro152Arg)
NM_005902.4(SMAD3):c.514C>T (p.Pro172Ser)
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.596G>C (p.Ser199Thr)
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.647A>G (p.His216Arg)
NM_005902.4(SMAD3):c.695G>C (p.Trp232Ser)
NM_005902.4(SMAD3):c.716_723delinsTT (p.Glu239_Asn241delinsVal)
NM_005902.4(SMAD3):c.71A>G (p.Asn24Ser)
NM_005902.4(SMAD3):c.728G>A (p.Arg243His) rs863223736
NM_005902.4(SMAD3):c.744C>G (p.Phe248Leu)
NM_005902.4(SMAD3):c.764T>G (p.Met255Arg) rs886038899
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.826A>G (p.Asn276Asp)
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln) rs886038991
NM_005902.4(SMAD3):c.871+22_871+23insCCCCCCCCCCCCCCCC
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
NM_005902.4(SMAD3):c.881T>C (p.Val294Ala)
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.947A>G (p.Gln316Arg)
NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp) rs1450927153
NM_005902.4(SMAD3):c.992T>A (p.Val331Asp) rs1555414028
NM_005902.4(SMAD3):c.994T>C (p.Cys332Arg)

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