ClinVar Miner

List of variants in gene SMAD3 reported by Ambry Genetics

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Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_005902.4(SMAD3):c.316A>G (p.Met106Val) rs138550573 0.00099
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_005902.4(SMAD3):c.747C>T (p.His249=) rs139907582 0.00025
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.687G>A (p.Pro229=) rs138940179 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_005902.4(SMAD3):c.777C>T (p.Gly259=) rs145414319 0.00013
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_005902.4(SMAD3):c.714C>T (p.Tyr238=) rs149443777 0.00009
NM_005902.4(SMAD3):c.783C>T (p.Thr261=) rs370620091 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.933C>T (p.Ser311=) rs771384141 0.00008
NM_005902.4(SMAD3):c.1128C>T (p.Phe376=) rs560348826 0.00007
NM_005902.4(SMAD3):c.510C>T (p.Ile170=) rs375925515 0.00006
NM_005902.4(SMAD3):c.990C>T (p.Thr330=) rs774470515 0.00006
NM_005902.4(SMAD3):c.1044C>T (p.Phe348=) rs751780616 0.00005
NM_005902.4(SMAD3):c.354C>T (p.Asp118=) rs752196822 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.872-4G>A rs776577220 0.00005
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.723C>T (p.Asn241=) rs144667334 0.00004
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.1102C>A (p.Arg368=) rs757106110 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.333C>T (p.Phe111=) rs762612490 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_005902.4(SMAD3):c.102G>T (p.Ala34=) rs748990258 0.00002
NM_005902.4(SMAD3):c.1065G>A (p.Ser355=) rs756181827 0.00002
NM_005902.4(SMAD3):c.372C>A (p.Pro124=) rs765624013 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.738G>A (p.Glu246=) rs771037017 0.00002
NM_005902.4(SMAD3):c.1009+5A>C rs772995932 0.00001
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=) rs767649515 0.00001
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala) rs1242358787 0.00001
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn) rs1555405116 0.00001
NM_005902.4(SMAD3):c.195C>T (p.Ile65=) rs368462984 0.00001
NM_005902.4(SMAD3):c.303C>T (p.His101=) rs762889441 0.00001
NM_005902.4(SMAD3):c.381C>T (p.Tyr127=) rs886038971 0.00001
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln) rs750982529 0.00001
NM_005902.4(SMAD3):c.414G>A (p.Val138=) rs771802144 0.00001
NM_005902.4(SMAD3):c.444C>T (p.Ala148=) rs563100221 0.00001
NM_005902.4(SMAD3):c.462C>T (p.Asp154=) rs756124653 0.00001
NM_005902.4(SMAD3):c.48G>A (p.Leu16=) rs886039210 0.00001
NM_005902.4(SMAD3):c.498C>T (p.Phe166=) rs1217111697 0.00001
NM_005902.4(SMAD3):c.501C>T (p.Pro167=) rs138395233 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_005902.4(SMAD3):c.603C>T (p.Asp201=) rs774814963 0.00001
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe) rs886038567 0.00001
NM_005902.4(SMAD3):c.729C>T (p.Arg243=) rs569358776 0.00001
NM_005902.4(SMAD3):c.732C>T (p.Val244=) rs749576770 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr) rs1348033858 0.00001
NM_005902.4(SMAD3):c.1008del (p.Gly337fs)
NM_005902.4(SMAD3):c.101C>A (p.Ala34Glu)
NM_005902.4(SMAD3):c.1084G>C (p.Ala362Pro)
NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs) rs1555414236
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.1099A>C (p.Thr367Pro)
NM_005902.4(SMAD3):c.109del (p.Ser37fs)
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter) rs757106110
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
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.1139G>A (p.Trp380Ter)
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.1154G>C (p.Arg385Thr) rs886038770
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_005902.4(SMAD3):c.1176C>A (p.Thr392=)
NM_005902.4(SMAD3):c.1178C>T (p.Pro393Leu)
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn) rs1595965957
NM_005902.4(SMAD3):c.1206G>T (p.Gly402=) rs1963332496
NM_005902.4(SMAD3):c.1227G>A (p.Lys409=)
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.165C>T (p.Ile55=)
NM_005902.4(SMAD3):c.186C>T (p.Thr62=)
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.246dup (p.Leu83fs) rs1555412069
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.309A>T (p.Leu103=) rs1065080
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.381C>A (p.Tyr127Ter)
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.432A>G (p.Thr144=)
NM_005902.4(SMAD3):c.436_447del (p.Ile146_Glu149del) rs1555412124
NM_005902.4(SMAD3):c.45G>C (p.Leu15=)
NM_005902.4(SMAD3):c.495C>T (p.Asn165=) rs374111837
NM_005902.4(SMAD3):c.514C>T (p.Pro172Ser)
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.546dup (p.Gly183fs)
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.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.672T>C (p.Val224=)
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.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.728G>A (p.Arg243His) rs863223736
NM_005902.4(SMAD3):c.729C>A (p.Arg243=)
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.744C>G (p.Phe248Leu)
NM_005902.4(SMAD3):c.756G>A (p.Gln252=) rs1278345256
NM_005902.4(SMAD3):c.764T>G (p.Met255Arg) rs886038899
NM_005902.4(SMAD3):c.783del (p.Asp262fs)
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.789C>T (p.Pro263=)
NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter) rs753486471
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln) rs886038991
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter) rs730880215
NM_005902.4(SMAD3):c.872-2_881del
NM_005902.4(SMAD3):c.881T>C (p.Val294Ala)
NM_005902.4(SMAD3):c.918G>A (p.Glu306=)
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.942del (p.Phe314fs) rs863223768
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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