ClinVar Miner

List of variants in gene SMAD3 reported as pathogenic by Invitae

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Gene type:
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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267 0.00001
NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) rs768713596 0.00001
NC_000015.10:g.(?_67066145)_(67066370_?)del
NC_000015.10:g.(?_67181221)_(67181473_?)del
NC_000015.10:g.(?_67186987)_(67187509_?)del
NC_000015.10:g.(?_67187355)_(67187519_?)del
NC_000015.9:g.(?_67358493)_(67457742_?)del
NC_000015.9:g.(?_67459097)_(67482874_?)del
NC_000015.9:g.(?_67477045)_(67482874_?)del
NC_000015.9:g.(?_67477100)_(67478916_?)del
NM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter) rs1567002115
NM_005902.4(SMAD3):c.1010-2A>G
NM_005902.4(SMAD3):c.1031_1032insT (p.Asn345fs)
NM_005902.4(SMAD3):c.1087_1090del (p.Val363fs)
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.1139G>A (p.Trp380Ter)
NM_005902.4(SMAD3):c.1141G>T (p.Gly381Ter) rs2140323765
NM_005902.4(SMAD3):c.1153dup (p.Arg385fs) rs1567003613
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_005902.4(SMAD3):c.1178_1179del (p.Pro393fs) rs1595965945
NM_005902.4(SMAD3):c.1179dup (p.Cys394fs) rs1595965945
NM_005902.4(SMAD3):c.1217G>A (p.Trp406Ter) rs2140327860
NM_005902.4(SMAD3):c.1246dup (p.Ser416fs)
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu) rs1963334413
NM_005902.4(SMAD3):c.1262_1265dup (p.Ser423fs) rs2140328010
NM_005902.4(SMAD3):c.1266del (p.Ser423fs) rs2140328026
NM_005902.4(SMAD3):c.1274C>G (p.Ser425Cys) rs2140328050
NM_005902.4(SMAD3):c.138del (p.Gln47fs) rs1555405108
NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter) rs863223762
NM_005902.4(SMAD3):c.207-10_280delinsA
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.229del (p.Val77fs)
NM_005902.4(SMAD3):c.246_247dup (p.Leu83fs) rs1555412070
NM_005902.4(SMAD3):c.246dup (p.Leu83fs) rs1555412069
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
NM_005902.4(SMAD3):c.276G>A (p.Trp92Ter) rs2140293906
NM_005902.4(SMAD3):c.276G>C (p.Trp92Cys)
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.281G>A (p.Trp94Ter) rs1057518977
NM_005902.4(SMAD3):c.363C>A (p.Cys121Ter)
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.382C>T (p.Gln128Ter) rs2140294260
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.427_431del (p.His143fs) rs1060500773
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.455del (p.Pro152fs) rs863223759
NM_005902.4(SMAD3):c.492dup (p.Asn165Ter) rs863223760
NM_005902.4(SMAD3):c.517del (p.Gln173fs) rs1595942351
NM_005902.4(SMAD3):c.545dup (p.Gly183fs) rs1291288543
NM_005902.4(SMAD3):c.546del (p.Gly183fs) rs1962602493
NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer) rs1064794789
NM_005902.4(SMAD3):c.552C>G (p.Tyr184Ter) rs1962602688
NM_005902.4(SMAD3):c.626del (p.Pro209fs)
NM_005902.4(SMAD3):c.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.65_71dup (p.Asn24fs) rs2140188825
NM_005902.4(SMAD3):c.695G>A (p.Trp232Ter)
NM_005902.4(SMAD3):c.702dup (p.Ile235fs)
NM_005902.4(SMAD3):c.714C>A (p.Tyr238Ter)
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
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.745del (p.His249fs) rs2140314073
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) rs1566999458
NM_005902.4(SMAD3):c.770_771del (p.Val257fs)
NM_005902.4(SMAD3):c.770_809del (p.Val257fs)
NM_005902.4(SMAD3):c.785A>T (p.Asp262Val) rs2140314210
NM_005902.4(SMAD3):c.787C>G (p.Pro263Ala) rs863223739
NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter) rs753486471
NM_005902.4(SMAD3):c.801_802delinsTT (p.Glu267_Arg268delinsAspCys) rs1555413579
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter) rs863223750
NM_005902.4(SMAD3):c.851_864del (p.Glu284fs) rs1566999621
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.862_869dup (p.Gly291fs) rs2140314457
NM_005902.4(SMAD3):c.867_868dup (p.Ile290fs)
NM_005902.4(SMAD3):c.871+1G>A rs1595956832
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_005902.4(SMAD3):c.872G>T (p.Gly291Val) rs1555413991
NM_005902.4(SMAD3):c.881dup (p.Arg295fs)
NM_005902.4(SMAD3):c.891C>G (p.Tyr297Ter)
NM_005902.4(SMAD3):c.903_904dup (p.Glu302fs) rs1060500770
NM_005902.4(SMAD3):c.904del (p.Glu302fs) rs1060500770
NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter) rs1595960447
NM_005902.4(SMAD3):c.960_972delinsGACACC (p.Cys320fs) rs1567002059
NM_005902.4(SMAD3):c.964C>T (p.Gln322Ter) rs1963178887
NM_005902.4(SMAD3):c.974dup (p.Trp326fs)
NM_005902.4(SMAD3):c.988del (p.Thr330fs) rs2140320169
NM_005902.4(SMAD3):c.990dup (p.Val331fs) rs863223754

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