ClinVar Miner

List of variants in gene SMAD3 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 534
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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.607+7C>T rs200998367 0.00036
NM_005902.4(SMAD3):c.207-11C>T rs148430981 0.00026
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_005902.4(SMAD3):c.747C>T (p.His249=) rs139907582 0.00025
NM_005902.4(SMAD3):c.872-19C>G rs74421858 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.207-13C>T rs200548744 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_005902.4(SMAD3):c.1009+7G>A rs772242555 0.00009
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.177C>T (p.Asn59=) rs769153458 0.00005
NM_005902.4(SMAD3):c.354C>T (p.Asp118=) rs752196822 0.00005
NM_005902.4(SMAD3):c.401-7C>T rs774268232 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.607+9T>A rs886051380 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.1155-11A>G rs184839478 0.00004
NM_005902.4(SMAD3):c.608-15T>C rs371614939 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.872-12G>C rs768529580 0.00004
NM_005902.4(SMAD3):c.879C>T (p.Gly293=) rs769683236 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.206+9C>T rs773458425 0.00003
NM_005902.4(SMAD3):c.207-4G>A rs1319147414 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.533-13_533-10del rs752716057 0.00003
NM_005902.4(SMAD3):c.708C>T (p.Ser236=) rs745390727 0.00003
NM_005902.4(SMAD3):c.871+19C>T rs770999871 0.00003
NM_005902.4(SMAD3):c.981C>G (p.His327Gln) rs780274581 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.1145C>T (p.Ala382Val) rs779602560 0.00002
NM_005902.4(SMAD3):c.1146G>A (p.Ala382=) rs746494089 0.00002
NM_005902.4(SMAD3):c.372C>A (p.Pro124=) rs765624013 0.00002
NM_005902.4(SMAD3):c.400+5G>T rs766829176 0.00002
NM_005902.4(SMAD3):c.532+14C>T rs567048156 0.00002
NM_005902.4(SMAD3):c.532+9G>A rs774868030 0.00002
NM_005902.4(SMAD3):c.608-4G>A rs372064378 0.00002
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg) rs755924969 0.00002
NM_005902.4(SMAD3):c.681C>T (p.Cys227=) rs753539358 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.753G>A (p.Ser251=) rs975704644 0.00002
NM_005902.4(SMAD3):c.897C>T (p.Ile299=) rs773943578 0.00002
NM_005902.4(SMAD3):c.912C>T (p.Phe304=) rs759140708 0.00002
NM_005902.4(SMAD3):c.968G>A (p.Arg323His) rs758586312 0.00002
NM_005902.4(SMAD3):c.999G>A (p.Lys333=) rs781081744 0.00002
NM_005902.4(SMAD3):c.1009+11C>T rs774180178 0.00001
NM_005902.4(SMAD3):c.1009+5A>C rs772995932 0.00001
NM_005902.4(SMAD3):c.1009+6C>T rs749052145 0.00001
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088 0.00001
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=) rs767649515 0.00001
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 0.00001
NM_005902.4(SMAD3):c.153G>A (p.Leu51=) rs1959914848 0.00001
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp) rs745387614 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.206+11G>T rs763321881 0.00001
NM_005902.4(SMAD3):c.207-3C>A rs757772685 0.00001
NM_005902.4(SMAD3):c.207-9T>C rs1194590241 0.00001
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267 0.00001
NM_005902.4(SMAD3):c.239G>A (p.Arg80Gln) rs758823376 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) rs768713596 0.00001
NM_005902.4(SMAD3):c.294C>T (p.His98=) rs781320332 0.00001
NM_005902.4(SMAD3):c.303C>T (p.His101=) rs762889441 0.00001
NM_005902.4(SMAD3):c.363C>T (p.Cys121=) rs760286714 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.401T>C (p.Val134Ala) rs863223767 0.00001
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys) rs1253901433 0.00001
NM_005902.4(SMAD3):c.444C>T (p.Ala148=) rs563100221 0.00001
NM_005902.4(SMAD3):c.450C>T (p.Phe150=) rs755354518 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.502G>A (p.Ala168Thr) rs548756379 0.00001
NM_005902.4(SMAD3):c.532+8C>T rs370879516 0.00001
NM_005902.4(SMAD3):c.567A>C (p.Gly189=) rs1313114326 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.603C>T (p.Asp201=) rs774814963 0.00001
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser) rs150682850 0.00001
NM_005902.4(SMAD3):c.633G>A (p.Pro211=) rs776009102 0.00001
NM_005902.4(SMAD3):c.63C>A (p.Gly21=) rs751526306 0.00001
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr) rs1962721856 0.00001
NM_005902.4(SMAD3):c.648T>C (p.His216=) rs776900159 0.00001
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe) rs886038567 0.00001
NM_005902.4(SMAD3):c.658+15G>C rs1296574345 0.00001
NM_005902.4(SMAD3):c.729C>T (p.Arg243=) rs569358776 0.00001
NM_005902.4(SMAD3):c.72C>T (p.Asn24=) rs780995229 0.00001
NM_005902.4(SMAD3):c.732C>T (p.Val244=) rs749576770 0.00001
NM_005902.4(SMAD3):c.744C>T (p.Phe248=) rs376023379 0.00001
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn) rs1201995588 0.00001
NM_005902.4(SMAD3):c.797C>T (p.Ser266Leu) rs753486471 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.81G>A (p.Glu27=) rs755882401 0.00001
NM_005902.4(SMAD3):c.822C>T (p.Leu274=) rs984900419 0.00001
NM_005902.4(SMAD3):c.828T>C (p.Asn276=) rs1375211503 0.00001
NM_005902.4(SMAD3):c.883C>T (p.Arg295Trp) rs1399970718 0.00001
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr) rs1348033858 0.00001
NM_005902.4(SMAD3):c.957C>T (p.Asn319=) rs1963178399 0.00001
NM_005902.4(SMAD3):c.964C>A (p.Gln322Lys) rs1963178887 0.00001
NM_005902.4(SMAD3):c.991G>A (p.Val331Ile) rs1320208623 0.00001
NC_000015.10:g.(?_67066145)_(67066370_?)del
NC_000015.10:g.(?_67181221)_(67181473_?)del
NC_000015.10:g.(?_67184717)_(67190546_?)dup
NC_000015.10:g.(?_67186987)_(67187509_?)del
NC_000015.10:g.(?_67187355)_(67187519_?)del
NC_000015.10:g.(?_67190393)_(67190556_?)del
NC_000015.9:g.(?_67358483)_(67358708_?)dup
NC_000015.9:g.(?_67358483)_(67482884_?)dup
NC_000015.9:g.(?_67358493)_(67358718_?)dup
NC_000015.9:g.(?_67358493)_(67457742_?)del
NC_000015.9:g.(?_67457213)_(67462962_?)dup
NC_000015.9:g.(?_67459097)_(67482874_?)del
NC_000015.9:g.(?_67473569)_(67482884_?)dup
NC_000015.9:g.(?_67477045)_(67482874_?)del
NC_000015.9:g.(?_67477100)_(67478916_?)del
NM_005902.4(SMAD3):c.1001T>A (p.Ile334Asn)
NM_005902.4(SMAD3):c.1002C>A (p.Ile334=) rs748178271
NM_005902.4(SMAD3):c.1002C>T (p.Ile334=)
NM_005902.4(SMAD3):c.1005A>G (p.Pro335=) rs34188464
NM_005902.4(SMAD3):c.1006C>G (p.Pro336Ala)
NM_005902.4(SMAD3):c.1009+12G>A
NM_005902.4(SMAD3):c.1009G>C (p.Gly337Arg)
NM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter) rs1567002115
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr) rs2140188906
NM_005902.4(SMAD3):c.1010-1G>C rs2140323368
NM_005902.4(SMAD3):c.1010-2A>G
NM_005902.4(SMAD3):c.1011A>C (p.Gly337=) rs556975942
NM_005902.4(SMAD3):c.1018C>T (p.Leu340=)
NM_005902.4(SMAD3):c.1019T>C (p.Leu340Pro) rs2140323401
NM_005902.4(SMAD3):c.1020G>A (p.Leu340=) rs1567003440
NM_005902.4(SMAD3):c.1029C>G (p.Phe343Leu) rs2140323430
NM_005902.4(SMAD3):c.1031_1032insT (p.Asn345fs)
NM_005902.4(SMAD3):c.1033A>T (p.Asn345Tyr)
NM_005902.4(SMAD3):c.1035C>T (p.Asn345=)
NM_005902.4(SMAD3):c.1044C>G (p.Phe348Leu)
NM_005902.4(SMAD3):c.1059C>T (p.Ala353=) rs767649515
NM_005902.4(SMAD3):c.1062G>T (p.Gln354His) rs1567003470
NM_005902.4(SMAD3):c.1080T>G (p.Phe360Leu) rs2140323584
NM_005902.4(SMAD3):c.1081G>A (p.Glu361Lys) rs387906856
NM_005902.4(SMAD3):c.1087G>A (p.Val363Ile)
NM_005902.4(SMAD3):c.1087_1090del (p.Val363fs)
NM_005902.4(SMAD3):c.1088T>C (p.Val363Ala)
NM_005902.4(SMAD3):c.1088T>G (p.Val363Gly) rs1595962693
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.109A>T (p.Ser37Cys)
NM_005902.4(SMAD3):c.1102C>G (p.Arg368Gly) rs757106110
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter) rs757106110
NM_005902.4(SMAD3):c.110G>T (p.Ser37Ile) rs1555405107
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) rs863223769
NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del) rs863223755
NM_005902.4(SMAD3):c.1110C>T (p.Cys370=) rs1353016768
NM_005902.4(SMAD3):c.1112C>A (p.Thr371Asn) rs1963251370
NM_005902.4(SMAD3):c.1117C>A (p.Arg373Ser) rs863223746
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.1118G>T (p.Arg373Leu) rs1060500766
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys) rs1555414240
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
NM_005902.4(SMAD3):c.1135G>A (p.Gly379Ser)
NM_005902.4(SMAD3):c.1137C>T (p.Gly379=)
NM_005902.4(SMAD3):c.1138T>G (p.Trp380Gly) rs1963252441
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
NM_005902.4(SMAD3):c.1141G>A (p.Gly381Arg)
NM_005902.4(SMAD3):c.1141G>T (p.Gly381Ter) rs2140323765
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val) rs1963252519
NM_005902.4(SMAD3):c.1149G>A (p.Glu383=) rs2140323797
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1153dup (p.Arg385fs) rs1567003613
NM_005902.4(SMAD3):c.1154+11G>C
NM_005902.4(SMAD3):c.1154+11G>T rs1474907392
NM_005902.4(SMAD3):c.1154+3C>T
NM_005902.4(SMAD3):c.1154+7T>G rs1595962801
NM_005902.4(SMAD3):c.1154+9T>C rs1567003626
NM_005902.4(SMAD3):c.1155-1G>A rs1963331116
NM_005902.4(SMAD3):c.115G>C (p.Val39Leu) rs2140188954
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_005902.4(SMAD3):c.1175C>A (p.Thr392Asn) rs1555414486
NM_005902.4(SMAD3):c.1178C>G (p.Pro393Arg)
NM_005902.4(SMAD3):c.1178_1179del (p.Pro393fs) rs1595965945
NM_005902.4(SMAD3):c.1179C>T (p.Pro393=) rs2140327732
NM_005902.4(SMAD3):c.1179dup (p.Cys394fs) rs1595965945
NM_005902.4(SMAD3):c.117C>G (p.Val39=) rs1595882130
NM_005902.4(SMAD3):c.117C>T (p.Val39=) rs1595882130
NM_005902.4(SMAD3):c.1180T>G (p.Cys394Gly) rs2140327744
NM_005902.4(SMAD3):c.1183T>A (p.Trp395Arg)
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn) rs1595965957
NM_005902.4(SMAD3):c.1187T>C (p.Ile396Thr) rs1595965957
NM_005902.4(SMAD3):c.1190A>G (p.Glu397Gly) rs1060500765
NM_005902.4(SMAD3):c.1190A>T (p.Glu397Val) rs1060500765
NM_005902.4(SMAD3):c.1195C>T (p.His399Tyr) rs1233301604
NM_005902.4(SMAD3):c.1206G>T (p.Gly402=) rs1963332496
NM_005902.4(SMAD3):c.1217G>A (p.Trp406Ter) rs2140327860
NM_005902.4(SMAD3):c.1221T>G (p.Leu407=)
NM_005902.4(SMAD3):c.1222G>C (p.Asp408His) rs201263330
NM_005902.4(SMAD3):c.1228G>T (p.Val410Phe) rs863223748
NM_005902.4(SMAD3):c.1228_1229insATGGCCTTTGCAGTGCCA (p.Val410delinsAspGlyLeuCysSerAlaIle) rs1963333453
NM_005902.4(SMAD3):c.1231C>T (p.Leu411Phe)
NM_005902.4(SMAD3):c.1236C>A (p.Thr412=)
NM_005902.4(SMAD3):c.123A>G (p.Lys41=)
NM_005902.4(SMAD3):c.1245C>A (p.Gly415=) rs146659831
NM_005902.4(SMAD3):c.1245C>T (p.Gly415=) rs146659831
NM_005902.4(SMAD3):c.1246dup (p.Ser416fs)
NM_005902.4(SMAD3):c.1247C>T (p.Ser416Phe) rs1963334285
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu) rs1963334413
NM_005902.4(SMAD3):c.1252A>G (p.Ser418Gly)
NM_005902.4(SMAD3):c.1262G>A (p.Cys421Tyr)
NM_005902.4(SMAD3):c.1262_1265dup (p.Ser423fs) rs2140328010
NM_005902.4(SMAD3):c.1265C>A (p.Ser422Tyr) rs1567005581
NM_005902.4(SMAD3):c.1265C>G (p.Ser422Cys)
NM_005902.4(SMAD3):c.1266del (p.Ser423fs) rs2140328026
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1268G>T (p.Ser423Ile)
NM_005902.4(SMAD3):c.1269T>A (p.Ser423Arg) rs1060500772
NM_005902.4(SMAD3):c.126C>A (p.Leu42=)
NM_005902.4(SMAD3):c.126C>G (p.Leu42=) rs1595882137
NM_005902.4(SMAD3):c.1274C>G (p.Ser425Cys) rs2140328050
NM_005902.4(SMAD3):c.1278G>C (p.Ter426Tyr) rs1555414506
NM_005902.4(SMAD3):c.135G>A (p.Thr45=)
NM_005902.4(SMAD3):c.138G>A (p.Gly46=) rs1959914440
NM_005902.4(SMAD3):c.138del (p.Gln47fs) rs1555405108
NM_005902.4(SMAD3):c.145G>C (p.Asp49His)
NM_005902.4(SMAD3):c.147C>T (p.Asp49=) rs1464740111
NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys) rs863223751
NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro)
NM_005902.4(SMAD3):c.152T>G (p.Leu51Arg) rs1595882150
NM_005902.4(SMAD3):c.153G>T (p.Leu51=) rs1959914848
NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter) rs863223762
NM_005902.4(SMAD3):c.157A>G (p.Lys53Glu) rs2140189069
NM_005902.4(SMAD3):c.160G>A (p.Ala54Thr) rs2140189075
NM_005902.4(SMAD3):c.161C>G (p.Ala54Gly)
NM_005902.4(SMAD3):c.163A>T (p.Ile55Phe)
NM_005902.4(SMAD3):c.163_177del (p.Ile55_Asn59del) rs1595882160
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys) rs1959915488
NM_005902.4(SMAD3):c.182A>C (p.Asn61Thr)
NM_005902.4(SMAD3):c.190T>C (p.Cys64Arg) rs1060500768
NM_005902.4(SMAD3):c.192C>T (p.Cys64=)
NM_005902.4(SMAD3):c.193A>T (p.Ile65Phe)
NM_005902.4(SMAD3):c.194T>A (p.Ile65Asn)
NM_005902.4(SMAD3):c.194T>C (p.Ile65Thr) rs1555405117
NM_005902.4(SMAD3):c.199A>G (p.Ile67Val)
NM_005902.4(SMAD3):c.203C>T (p.Pro68Leu)
NM_005902.4(SMAD3):c.205A>G (p.Arg69Gly) rs1959916737
NM_005902.4(SMAD3):c.206+10C>T rs1476616287
NM_005902.4(SMAD3):c.206+14C>G
NM_005902.4(SMAD3):c.206+17G>A
NM_005902.4(SMAD3):c.206+20G>A
NM_005902.4(SMAD3):c.206+20_206+23del
NM_005902.4(SMAD3):c.206+21del
NM_005902.4(SMAD3):c.206+21dup
NM_005902.4(SMAD3):c.206+3G>T rs1265081565
NM_005902.4(SMAD3):c.206+5G>A rs1959917032
NM_005902.4(SMAD3):c.206+8C>A rs1183571536
NM_005902.4(SMAD3):c.206+8C>T
NM_005902.4(SMAD3):c.206G>A (p.Arg69Lys) rs1959916789
NM_005902.4(SMAD3):c.207-10_280delinsA
NM_005902.4(SMAD3):c.207-16C>A
NM_005902.4(SMAD3):c.207-18C>G
NM_005902.4(SMAD3):c.207-1G>C rs1962532975
NM_005902.4(SMAD3):c.207-6_207-5insA
NM_005902.4(SMAD3):c.207-7C>T
NM_005902.4(SMAD3):c.207-8C>G
NM_005902.4(SMAD3):c.209C>A (p.Ser70Tyr) rs2140293635
NM_005902.4(SMAD3):c.212T>C (p.Leu71Pro) rs1262859970
NM_005902.4(SMAD3):c.215A>G (p.Asp72Gly)
NM_005902.4(SMAD3):c.217G>A (p.Gly73Ser) rs1595941556
NM_005902.4(SMAD3):c.219C>A (p.Gly73=)
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.222G>C (p.Arg74=)
NM_005902.4(SMAD3):c.228G>A (p.Gln76=) rs886041046
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) rs886041046
NM_005902.4(SMAD3):c.229G>T (p.Val77Leu)
NM_005902.4(SMAD3):c.229del (p.Val77fs)
NM_005902.4(SMAD3):c.236A>G (p.His79Arg)
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp) rs750707381
NM_005902.4(SMAD3):c.239G>C (p.Arg80Pro) rs758823376
NM_005902.4(SMAD3):c.243G>T (p.Lys81Asn) rs1555412065
NM_005902.4(SMAD3):c.246_247dup (p.Leu83fs) rs1555412070
NM_005902.4(SMAD3):c.246dup (p.Leu83fs) rs1555412069
NM_005902.4(SMAD3):c.258C>A (p.Val86=) rs1356079956
NM_005902.4(SMAD3):c.261C>T (p.Ile87=) rs1421383761
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.270_271delinsAA (p.Leu91Met) rs1962535802
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)
NM_005902.4(SMAD3):c.272T>C (p.Leu91Pro)
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.290T>C (p.Leu97Pro) rs1595941698
NM_005902.4(SMAD3):c.292C>T (p.His98Tyr) rs1962536933
NM_005902.4(SMAD3):c.298CAC[1] (p.His101del)
NM_005902.4(SMAD3):c.303C>G (p.His101Gln)
NM_005902.4(SMAD3):c.306G>A (p.Glu102=)
NM_005902.4(SMAD3):c.306_308dup (p.Leu103dup) rs1962537774
NM_005902.4(SMAD3):c.308_309delinsCG (p.Leu103Pro) rs2140294002
NM_005902.4(SMAD3):c.309A>T (p.Leu103=) rs1065080
NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)
NM_005902.4(SMAD3):c.313G>C (p.Ala105Pro)
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) rs1301737199
NM_005902.4(SMAD3):c.320A>G (p.Glu107Gly)
NM_005902.4(SMAD3):c.321G>A (p.Glu107=) rs1595941776
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg) rs1962538901
NM_005902.4(SMAD3):c.325T>A (p.Cys109Ser) rs1555412079
NM_005902.4(SMAD3):c.326G>A (p.Cys109Tyr) rs878854814
NM_005902.4(SMAD3):c.330G>A (p.Glu110=) rs1962539268
NM_005902.4(SMAD3):c.331T>C (p.Phe111Leu) rs1595941801
NM_005902.4(SMAD3):c.342T>C (p.Asn114=)
NM_005902.4(SMAD3):c.343A>G (p.Met115Val)
NM_005902.4(SMAD3):c.345G>A (p.Met115Ile) rs1595941837
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.348G>A (p.Lys116=)
NM_005902.4(SMAD3):c.358G>T (p.Val120Phe)
NM_005902.4(SMAD3):c.359T>G (p.Val120Gly) rs1962540440
NM_005902.4(SMAD3):c.363C>A (p.Cys121Ter)
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.364G>T (p.Val122Leu)
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.376C>A (p.His126Asn)
NM_005902.4(SMAD3):c.377A>G (p.His126Arg) rs863223766
NM_005902.4(SMAD3):c.379T>A (p.Tyr127Asn) rs1962541191
NM_005902.4(SMAD3):c.382C>T (p.Gln128Ter) rs2140294260
NM_005902.4(SMAD3):c.393G>A (p.Glu131=)
NM_005902.4(SMAD3):c.401-10C>T rs1243684484
NM_005902.4(SMAD3):c.401-11C>A rs1962548669
NM_005902.4(SMAD3):c.401-13C>G rs2140294678
NM_005902.4(SMAD3):c.401-17_401-16del
NM_005902.4(SMAD3):c.401-4A>G
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.401-7C>A rs774268232
NM_005902.4(SMAD3):c.401-9C>T
NM_005902.4(SMAD3):c.411T>A (p.Pro137=)
NM_005902.4(SMAD3):c.415T>C (p.Leu139=)
NM_005902.4(SMAD3):c.427_431del (p.His143fs) rs1060500773
NM_005902.4(SMAD3):c.441G>A (p.Pro147=) rs140275295
NM_005902.4(SMAD3):c.441G>T (p.Pro147=) rs140275295
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.449T>A (p.Phe150Tyr)
NM_005902.4(SMAD3):c.451C>T (p.Pro151Ser)
NM_005902.4(SMAD3):c.454C>G (p.Pro152Ala)
NM_005902.4(SMAD3):c.455del (p.Pro152fs) rs863223759
NM_005902.4(SMAD3):c.463G>A (p.Asp155Asn)
NM_005902.4(SMAD3):c.467A>G (p.Tyr156Cys) rs1397686956
NM_005902.4(SMAD3):c.468C>T (p.Tyr156=) rs1555412132
NM_005902.4(SMAD3):c.481C>A (p.Pro161Thr)
NM_005902.4(SMAD3):c.481C>T (p.Pro161Ser)
NM_005902.4(SMAD3):c.483C>A (p.Pro161=) rs202203039
NM_005902.4(SMAD3):c.490A>G (p.Thr164Ala)
NM_005902.4(SMAD3):c.492dup (p.Asn165Ter) rs863223760
NM_005902.4(SMAD3):c.495C>T (p.Asn165=) rs374111837
NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)
NM_005902.4(SMAD3):c.516C>T (p.Pro172=) rs776144459
NM_005902.4(SMAD3):c.517del (p.Gln173fs) rs1595942351
NM_005902.4(SMAD3):c.51C>T (p.Gly17=) rs1595882093
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
NM_005902.4(SMAD3):c.532+13G>A
NM_005902.4(SMAD3):c.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.532+3A>G
NM_005902.4(SMAD3):c.532+8C>A rs370879516
NM_005902.4(SMAD3):c.532+9G>T rs774868030
NM_005902.4(SMAD3):c.533-11C>T
NM_005902.4(SMAD3):c.533-20A>G
NM_005902.4(SMAD3):c.533-5C>T
NM_005902.4(SMAD3):c.533-9G>A rs1962601377
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
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.575G>A (p.Ser192Asn)
NM_005902.4(SMAD3):c.585G>A (p.Gln195=)
NM_005902.4(SMAD3):c.596G>T (p.Ser199Ile) rs2140296884
NM_005902.4(SMAD3):c.598A>G (p.Met200Val)
NM_005902.4(SMAD3):c.601G>T (p.Asp201Tyr) rs1182834384
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly) rs1416321033
NM_005902.4(SMAD3):c.603C>G (p.Asp201Glu)
NM_005902.4(SMAD3):c.607+11C>G
NM_005902.4(SMAD3):c.607+16T>C
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.608-12C>A
NM_005902.4(SMAD3):c.608-17C>A rs2140301047
NM_005902.4(SMAD3):c.608-5C>T
NM_005902.4(SMAD3):c.608-7C>T
NM_005902.4(SMAD3):c.608-7del rs1595947013
NM_005902.4(SMAD3):c.60G>A (p.Lys20=) rs1595882103
NM_005902.4(SMAD3):c.626del (p.Pro209fs)
NM_005902.4(SMAD3):c.631C>G (p.Pro211Ala)
NM_005902.4(SMAD3):c.635T>C (p.Met212Thr)
NM_005902.4(SMAD3):c.63C>G (p.Gly21=) rs751526306
NM_005902.4(SMAD3):c.63C>T (p.Gly21=)
NM_005902.4(SMAD3):c.644C>G (p.Ala215Gly) rs376353913
NM_005902.4(SMAD3):c.651T>C (p.Asn217=) rs1962722662
NM_005902.4(SMAD3):c.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.658+17G>A
NM_005902.4(SMAD3):c.658G>A (p.Asp220Asn) rs2140301204
NM_005902.4(SMAD3):c.658G>C (p.Asp220His)
NM_005902.4(SMAD3):c.659-12del
NM_005902.4(SMAD3):c.659-2A>G
NM_005902.4(SMAD3):c.65_71dup (p.Asn24fs) rs2140188825
NM_005902.4(SMAD3):c.666G>A (p.Gln222=) rs2140313814
NM_005902.4(SMAD3):c.682G>A (p.Glu228Lys) rs863223735
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu) rs1232187684
NM_005902.4(SMAD3):c.695G>A (p.Trp232Ter)
NM_005902.4(SMAD3):c.699C>G (p.Cys233Trp) rs2140313911
NM_005902.4(SMAD3):c.702dup (p.Ile235fs)
NM_005902.4(SMAD3):c.707C>T (p.Ser236Phe) rs1963046088
NM_005902.4(SMAD3):c.709TAC[1] (p.Tyr238del) rs863223752
NM_005902.4(SMAD3):c.711C>T (p.Tyr237=) rs2140313946
NM_005902.4(SMAD3):c.714C>A (p.Tyr238Ter)
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.719T>A (p.Leu240Gln)
NM_005902.4(SMAD3):c.721A>C (p.Asn241His)
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.72C>G (p.Asn24Lys) rs780995229
NM_005902.4(SMAD3):c.730G>T (p.Val244Phe) rs773543026
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.734G>A (p.Gly245Glu) rs1963047822
NM_005902.4(SMAD3):c.741A>G (p.Thr247=)
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
NM_005902.4(SMAD3):c.745del (p.His249fs) rs2140314073
NM_005902.4(SMAD3):c.750C>T (p.Ala250=) rs771854466
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) rs1566999458
NM_005902.4(SMAD3):c.756G>A (p.Gln252=) rs1278345256
NM_005902.4(SMAD3):c.759A>G (p.Pro253=)
NM_005902.4(SMAD3):c.762C>A (p.Ser254=) rs1963049270
NM_005902.4(SMAD3):c.769G>A (p.Val257Met) rs1963049659
NM_005902.4(SMAD3):c.770_771del (p.Val257fs)
NM_005902.4(SMAD3):c.770_809del (p.Val257fs)
NM_005902.4(SMAD3):c.772G>C (p.Asp258His) rs863223738
NM_005902.4(SMAD3):c.773A>G (p.Asp258Gly) rs1566999483
NM_005902.4(SMAD3):c.776G>A (p.Gly259Asp) rs1963050062
NM_005902.4(SMAD3):c.780C>G (p.Phe260Leu) rs1250669634
NM_005902.4(SMAD3):c.781A>G (p.Thr261Ala) rs1060500764
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.787C>T (p.Pro263Ser) rs863223739
NM_005902.4(SMAD3):c.788C>G (p.Pro263Arg) rs387906855
NM_005902.4(SMAD3):c.790_792dup (p.Ser264dup) rs2140314233
NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter) rs753486471
NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del)
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.804C>T (p.Arg268=)
NM_005902.4(SMAD3):c.805T>C (p.Phe269Leu) rs1595956712
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.817C>T (p.Leu273=)
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter) rs863223750
NM_005902.4(SMAD3):c.835A>G (p.Arg279Gly) rs1595956756
NM_005902.4(SMAD3):c.838A>T (p.Asn280Tyr) rs2140314384
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val) rs1963053530
NM_005902.4(SMAD3):c.851_864del (p.Glu284fs) rs1566999621
NM_005902.4(SMAD3):c.854T>C (p.Leu285Pro)
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.864_866dup (p.Arg288_His289insGln)
NM_005902.4(SMAD3):c.867_868dup (p.Ile290fs)
NM_005902.4(SMAD3):c.871+10G>A
NM_005902.4(SMAD3):c.871+1G>A rs1595956832
NM_005902.4(SMAD3):c.871+20C>G
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
NM_005902.4(SMAD3):c.872-12G>A
NM_005902.4(SMAD3):c.872-14C>T
NM_005902.4(SMAD3):c.872-2A>G
NM_005902.4(SMAD3):c.872-6_872-5del rs1963174213
NM_005902.4(SMAD3):c.872-9T>C
NM_005902.4(SMAD3):c.872G>T (p.Gly291Val) rs1555413991
NM_005902.4(SMAD3):c.881dup (p.Arg295fs)
NM_005902.4(SMAD3):c.884G>A (p.Arg295Gln) rs772730200
NM_005902.4(SMAD3):c.884G>T (p.Arg295Leu) rs772730200
NM_005902.4(SMAD3):c.887T>C (p.Leu296Pro) rs2140319849
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.907G>A (p.Val303Ile) rs1060500767
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.925A>G (p.Ser309Gly) rs754409301
NM_005902.4(SMAD3):c.931A>G (p.Ser311Gly)
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.934G>C (p.Ala312Pro)
NM_005902.4(SMAD3):c.936T>G (p.Ala312=) rs2140319998
NM_005902.4(SMAD3):c.937A>G (p.Ile313Val) rs1595960434
NM_005902.4(SMAD3):c.943G>A (p.Val315Ile)
NM_005902.4(SMAD3):c.943G>T (p.Val315Phe) rs1468779374
NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter) rs1595960447
NM_005902.4(SMAD3):c.955A>G (p.Asn319Asp) rs1595960455
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.969C>G (p.Arg323=) rs2140320092
NM_005902.4(SMAD3):c.974dup (p.Trp326fs)
NM_005902.4(SMAD3):c.987C>A (p.Ala329=) rs2140320162
NM_005902.4(SMAD3):c.987C>G (p.Ala329=) rs2140320162
NM_005902.4(SMAD3):c.988del (p.Thr330fs) rs2140320169
NM_005902.4(SMAD3):c.990dup (p.Val331fs) rs863223754
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623
Single allele

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