ClinVar Miner

List of variants in gene SMAD3 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 491
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.*2547C>T rs72661161 0.00096
NM_005902.4(SMAD3):c.*1315C>T rs886051391 0.00070
NM_005902.4(SMAD3):c.*1583T>G rs577631492 0.00058
NM_005902.4(SMAD3):c.*2028T>C rs549152312 0.00041
NM_005902.4(SMAD3):c.*2046T>C rs761162475 0.00028
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_005902.4(SMAD3):c.-244G>A rs886051374 0.00022
NM_005902.4(SMAD3):c.533-585G>T rs762320351 0.00022
NM_005902.4(SMAD3):c.*2786T>A rs775905689 0.00020
NM_005902.4(SMAD3):c.-265T>G rs886051373 0.00017
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_005902.4(SMAD3):c.*2285G>A rs62014609 0.00013
NM_005902.4(SMAD3):c.*2403C>T rs755985886 0.00013
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.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.*250C>A rs754034578 0.00006
NM_005902.4(SMAD3):c.207-26869C>A rs958007552 0.00006
NM_005902.4(SMAD3):c.*626C>T rs886051385 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.*1316G>A rs996604810 0.00004
NM_005902.4(SMAD3):c.*789A>G rs191679355 0.00004
NM_005902.4(SMAD3):c.*805G>A rs770764038 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.*2573G>A rs886051418 0.00003
NM_005902.4(SMAD3):c.*552G>C rs769408016 0.00003
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.533-13_533-10del rs752716057 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.*1561A>T rs1275046716 0.00002
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.968G>A (p.Arg323His) rs758586312 0.00002
NM_005902.4(SMAD3):c.*1159A>G rs1002378365 0.00001
NM_005902.4(SMAD3):c.*1455G>C rs1479158835 0.00001
NM_005902.4(SMAD3):c.*1819C>T rs886051406 0.00001
NM_005902.4(SMAD3):c.*4C>T rs1252748287 0.00001
NM_005902.4(SMAD3):c.*6del rs772778568 0.00001
NM_005902.4(SMAD3):c.*804C>T rs1217099486 0.00001
NM_005902.4(SMAD3):c.*925G>A rs886051389 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.1010-12T>C rs773629535 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.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.207-3C>A rs757772685 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.303C>T (p.His101=) rs762889441 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.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.604G>A (p.Ala202Thr) rs760091844 0.00001
NM_005902.4(SMAD3):c.607+5G>T rs772419612 0.00001
NM_005902.4(SMAD3):c.607G>A (p.Gly203Ser) rs1416583276 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.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.883C>T (p.Arg295Trp) rs1399970718 0.00001
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr) rs1348033858 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
GRCh37/hg19 15q22.31-22.33(chr15:67151901-67423565)x3
NC_000015.10:g.(?_67184717)_(67190546_?)dup
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.(?_67473569)_(67482884_?)dup
NM_005902.4(SMAD3):c.*1326A>G rs886051392
NM_005902.4(SMAD3):c.*1355C>G rs886051393
NM_005902.4(SMAD3):c.*1443C>A rs886051394
NM_005902.4(SMAD3):c.*1493C>A rs886051395
NM_005902.4(SMAD3):c.*1515C>A rs886051396
NM_005902.4(SMAD3):c.*1548G>T rs886051397
NM_005902.4(SMAD3):c.*1597G>C rs886051398
NM_005902.4(SMAD3):c.*1614C>A rs886051399
NM_005902.4(SMAD3):c.*1641T>G rs886051400
NM_005902.4(SMAD3):c.*1644T>G rs886051401
NM_005902.4(SMAD3):c.*1695G>T rs886051402
NM_005902.4(SMAD3):c.*1749G>T rs886051403
NM_005902.4(SMAD3):c.*1767G>C rs533635017
NM_005902.4(SMAD3):c.*1784G>T rs886051404
NM_005902.4(SMAD3):c.*1790G>A rs530788405
NM_005902.4(SMAD3):c.*1800_*1803del rs141408841
NM_005902.4(SMAD3):c.*1820G>T rs886051407
NM_005902.4(SMAD3):c.*1831G>T rs886051408
NM_005902.4(SMAD3):c.*1853C>A rs886051409
NM_005902.4(SMAD3):c.*1915G>A rs961459942
NM_005902.4(SMAD3):c.*195G>T rs886051381
NM_005902.4(SMAD3):c.*2026T>C rs886051410
NM_005902.4(SMAD3):c.*2038G>T rs886051411
NM_005902.4(SMAD3):c.*2245C>A rs886051412
NM_005902.4(SMAD3):c.*2251C>A rs886051413
NM_005902.4(SMAD3):c.*2291C>A rs886051414
NM_005902.4(SMAD3):c.*2303G>C rs886051415
NM_005902.4(SMAD3):c.*2453C>A rs886051416
NM_005902.4(SMAD3):c.*2476A>C rs886051417
NM_005902.4(SMAD3):c.*2573G>T rs886051418
NM_005902.4(SMAD3):c.*2580C>A rs886051419
NM_005902.4(SMAD3):c.*2596G>T rs886051420
NM_005902.4(SMAD3):c.*2891C>A rs886051421
NM_005902.4(SMAD3):c.*292G>T rs886051382
NM_005902.4(SMAD3):c.*2963A>C rs886051422
NM_005902.4(SMAD3):c.*304C>T rs565932125
NM_005902.4(SMAD3):c.*30C>T rs201206131
NM_005902.4(SMAD3):c.*3120G>T rs886051423
NM_005902.4(SMAD3):c.*3147G>T rs886051425
NM_005902.4(SMAD3):c.*3148T>C rs886051426
NM_005902.4(SMAD3):c.*3174del rs886051427
NM_005902.4(SMAD3):c.*3174dup rs886051427
NM_005902.4(SMAD3):c.*3661G>A rs886051430
NM_005902.4(SMAD3):c.*3738C>T rs886051432
NM_005902.4(SMAD3):c.*4195G>A rs886051433
NM_005902.4(SMAD3):c.*4556C>A rs886051435
NM_005902.4(SMAD3):c.*4556C>T rs886051435
NM_005902.4(SMAD3):c.*495C>A rs886051383
NM_005902.4(SMAD3):c.*552G>T rs769408016
NM_005902.4(SMAD3):c.*573G>T rs886051384
NM_005902.4(SMAD3):c.*594C>T rs1963353753
NM_005902.4(SMAD3):c.*632C>A rs886051386
NM_005902.4(SMAD3):c.*656C>A rs886051387
NM_005902.4(SMAD3):c.*678C>A rs886051388
NM_005902.4(SMAD3):c.*937T>C rs1272484755
NM_005902.4(SMAD3):c.*981C>A rs886051390
NM_005902.4(SMAD3):c.-139C>G rs1595881947
NM_005902.4(SMAD3):c.-164A>C rs886051378
NM_005902.4(SMAD3):c.-168C>A rs886051377
NM_005902.4(SMAD3):c.-217C>T rs886051376
NM_005902.4(SMAD3):c.-240G>T rs886051375
NM_005902.4(SMAD3):c.-280C>A rs886051372
NM_005902.4(SMAD3):c.1001T>A (p.Ile334Asn)
NM_005902.4(SMAD3):c.1006C>G (p.Pro336Ala)
NM_005902.4(SMAD3):c.1009G>C (p.Gly337Arg)
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr) rs2140188906
NM_005902.4(SMAD3):c.1019T>C (p.Leu340Pro) rs2140323401
NM_005902.4(SMAD3):c.101C>A (p.Ala34Glu)
NM_005902.4(SMAD3):c.1029C>G (p.Phe343Leu) rs2140323430
NM_005902.4(SMAD3):c.1033A>C (p.Asn345His) rs2140323442
NM_005902.4(SMAD3):c.1033A>T (p.Asn345Tyr)
NM_005902.4(SMAD3):c.1035C>G (p.Asn345Lys) rs1304126587
NM_005902.4(SMAD3):c.1044C>G (p.Phe348Leu)
NM_005902.4(SMAD3):c.1045G>A (p.Ala349Thr) rs1963249175
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
NM_005902.4(SMAD3):c.1062G>T (p.Gln354His) rs1567003470
NM_005902.4(SMAD3):c.1064C>T (p.Ser355Leu) rs752776110
NM_005902.4(SMAD3):c.1065G>T (p.Ser355=) rs756181827
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.1081G>C (p.Glu361Gln) rs387906856
NM_005902.4(SMAD3):c.1084G>C (p.Ala362Pro)
NM_005902.4(SMAD3):c.1087G>A (p.Val363Ile)
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.1099A>C (p.Thr367Pro)
NM_005902.4(SMAD3):c.109A>T (p.Ser37Cys)
NM_005902.4(SMAD3):c.1102C>G (p.Arg368Gly) rs757106110
NM_005902.4(SMAD3):c.1103G>A (p.Arg368Gln)
NM_005902.4(SMAD3):c.1106T>A (p.Met369Lys) rs1294653592
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.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>A (p.Ser375Asn) rs1232656160
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu) rs2140323743
NM_005902.4(SMAD3):c.1135G>A (p.Gly379Ser)
NM_005902.4(SMAD3):c.1136G>T (p.Gly379Val) rs1963252361
NM_005902.4(SMAD3):c.1137C>T (p.Gly379=)
NM_005902.4(SMAD3):c.1138T>G (p.Trp380Gly) rs1963252441
NM_005902.4(SMAD3):c.1141G>A (p.Gly381Arg)
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val) rs1963252519
NM_005902.4(SMAD3):c.1144G>A (p.Ala382Thr)
NM_005902.4(SMAD3):c.1150T>C (p.Tyr384His) rs2140323802
NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys) rs2140323808
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1154+3C>G
NM_005902.4(SMAD3):c.1154+3C>T
NM_005902.4(SMAD3):c.1154+4A>G rs1963253277
NM_005902.4(SMAD3):c.1155-1G>A rs1963331116
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr) rs1567005489
NM_005902.4(SMAD3):c.115G>C (p.Val39Leu) rs2140188954
NM_005902.4(SMAD3):c.1165G>A (p.Val389Met) rs863223747
NM_005902.4(SMAD3):c.1175C>A (p.Thr392Asn) rs1555414486
NM_005902.4(SMAD3):c.1177C>G (p.Pro393Ala) rs2140327731
NM_005902.4(SMAD3):c.1178C>G (p.Pro393Arg)
NM_005902.4(SMAD3):c.1178C>T (p.Pro393Leu)
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
NM_005902.4(SMAD3):c.1180T>G (p.Cys394Gly) rs2140327744
NM_005902.4(SMAD3):c.1183T>A (p.Trp395Arg)
NM_005902.4(SMAD3):c.1185G>T (p.Trp395Cys)
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.119A>G (p.Lys40Arg) rs2140188975
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser) rs1555414491
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.1230C>A (p.Val410=)
NM_005902.4(SMAD3):c.1231C>T (p.Leu411Phe)
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.1252A>G (p.Ser418Gly)
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His) rs762012589
NM_005902.4(SMAD3):c.1262G>A (p.Cys421Tyr)
NM_005902.4(SMAD3):c.1265C>A (p.Ser422Tyr) rs1567005581
NM_005902.4(SMAD3):c.1265C>G (p.Ser422Cys)
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1269T>A (p.Ser423Arg) rs1060500772
NM_005902.4(SMAD3):c.1277A>T (p.Ter426Leu) rs1555414505
NM_005902.4(SMAD3):c.1278G>C (p.Ter426Tyr) rs1555414506
NM_005902.4(SMAD3):c.137G>A (p.Gly46Glu)
NM_005902.4(SMAD3):c.145G>C (p.Asp49His)
NM_005902.4(SMAD3):c.145G>T (p.Asp49Tyr) rs1959914506
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.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.167C>G (p.Thr56Ser)
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro) rs730880213
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys) rs1959915488
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
NM_005902.4(SMAD3):c.182A>C (p.Asn61Thr)
NM_005902.4(SMAD3):c.185C>T (p.Thr62Ile) rs1959916186
NM_005902.4(SMAD3):c.190T>C (p.Cys64Arg) rs1060500768
NM_005902.4(SMAD3):c.191G>A (p.Cys64Tyr)
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+2T>G rs2140189216
NM_005902.4(SMAD3):c.206+3G>T rs1265081565
NM_005902.4(SMAD3):c.206+4G>A
NM_005902.4(SMAD3):c.206+5G>A rs1959917032
NM_005902.4(SMAD3):c.206G>A (p.Arg69Lys) rs1959916789
NM_005902.4(SMAD3):c.207-26797del rs1291138310
NM_005902.4(SMAD3):c.207-26806G>T
NM_005902.4(SMAD3):c.207-26834G>A
NM_005902.4(SMAD3):c.207-26843C>T
NM_005902.4(SMAD3):c.207-26846A>C
NM_005902.4(SMAD3):c.207-6_207-5insA
NM_005902.4(SMAD3):c.212T>C (p.Leu71Pro) rs1262859970
NM_005902.4(SMAD3):c.214G>C (p.Asp72His)
NM_005902.4(SMAD3):c.215A>G (p.Asp72Gly)
NM_005902.4(SMAD3):c.217G>A (p.Gly73Ser) rs1595941556
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) rs886041046
NM_005902.4(SMAD3):c.229G>A (p.Val77Met)
NM_005902.4(SMAD3):c.229G>T (p.Val77Leu)
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.242A>T (p.Lys81Met)
NM_005902.4(SMAD3):c.243G>T (p.Lys81Asn) rs1555412065
NM_005902.4(SMAD3):c.244G>A (p.Gly82Arg) rs1566991421
NM_005902.4(SMAD3):c.253C>T (p.His85Tyr)
NM_005902.4(SMAD3):c.260T>C (p.Ile87Thr) rs863223764
NM_005902.4(SMAD3):c.262T>C (p.Tyr88His)
NM_005902.4(SMAD3):c.263A>G (p.Tyr88Cys) rs1595941635
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr) rs1962535460
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.269G>C (p.Arg90Pro)
NM_005902.4(SMAD3):c.270_271delinsAA (p.Leu91Met) rs1962535802
NM_005902.4(SMAD3):c.272T>C (p.Leu91Pro)
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.278G>T (p.Arg93Leu) rs863223765
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu) rs1057518977
NM_005902.4(SMAD3):c.284C>G (p.Pro95Arg)
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu) rs1962536528
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.295A>G (p.Ser99Gly)
NM_005902.4(SMAD3):c.298CAC[1] (p.His101del)
NM_005902.4(SMAD3):c.303C>G (p.His101Gln)
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
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.309_310inv (p.Arg104Trp)
NM_005902.4(SMAD3):c.309_311delinsGCA (p.Arg104Gln) rs2140294017
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>C (p.Ala105Pro)
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.317T>C (p.Met106Thr) rs1301737199
NM_005902.4(SMAD3):c.320A>G (p.Glu107Gly)
NM_005902.4(SMAD3):c.322C>A (p.Leu108Met) rs1595941782
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.325T>C (p.Cys109Arg) rs1555412079
NM_005902.4(SMAD3):c.326G>A (p.Cys109Tyr) rs878854814
NM_005902.4(SMAD3):c.331T>C (p.Phe111Leu) rs1595941801
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
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.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.358G>T (p.Val120Phe)
NM_005902.4(SMAD3):c.359T>A (p.Val120Asp) rs1962540440
NM_005902.4(SMAD3):c.359T>G (p.Val120Gly) rs1962540440
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.376C>T (p.His126Tyr) rs886038771
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.384G>C (p.Gln128His) rs1962541593
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg) rs2140294309
NM_005902.4(SMAD3):c.401-11C>A rs1962548669
NM_005902.4(SMAD3):c.401-7C>A rs774268232
NM_005902.4(SMAD3):c.436_447del (p.Ile146_Glu149del) rs1555412124
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.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.463G>A (p.Asp155Asn)
NM_005902.4(SMAD3):c.467A>G (p.Tyr156Cys) rs1397686956
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val) rs2140188791
NM_005902.4(SMAD3):c.481C>A (p.Pro161Thr)
NM_005902.4(SMAD3):c.481C>T (p.Pro161Ser)
NM_005902.4(SMAD3):c.490A>G (p.Thr164Ala)
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser) rs1254152984
NM_005902.4(SMAD3):c.514C>T (p.Pro172Ser)
NM_005902.4(SMAD3):c.519G>C (p.Gln173His) rs1064796949
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
NM_005902.4(SMAD3):c.532+3A>G
NM_005902.4(SMAD3):c.532+5G>T rs1962555390
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.533-585G>A rs762320351
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg) rs1959912294
NM_005902.4(SMAD3):c.575G>A (p.Ser192Asn)
NM_005902.4(SMAD3):c.57G>T (p.Lys19Asn)
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
NM_005902.4(SMAD3):c.596G>C (p.Ser199Thr)
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+1G>T rs1060500771
NM_005902.4(SMAD3):c.608G>A (p.Gly203Asp) rs1962720069
NM_005902.4(SMAD3):c.615_626del (p.Leu207_Asn210del) rs1064796965
NM_005902.4(SMAD3):c.625C>A (p.Pro209Thr)
NM_005902.4(SMAD3):c.626C>G (p.Pro209Arg)
NM_005902.4(SMAD3):c.626C>T (p.Pro209Leu) rs1209899173
NM_005902.4(SMAD3):c.631C>G (p.Pro211Ala)
NM_005902.4(SMAD3):c.634A>T (p.Met212Leu) rs1962721215
NM_005902.4(SMAD3):c.635T>C (p.Met212Thr)
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.647A>G (p.His216Arg)
NM_005902.4(SMAD3):c.64G>A (p.Glu22Lys) rs2140188822
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.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.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.682G>A (p.Glu228Lys) rs863223735
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu) rs1232187684
NM_005902.4(SMAD3):c.695G>C (p.Trp232Ser)
NM_005902.4(SMAD3):c.696G>C (p.Trp232Cys) rs778356642
NM_005902.4(SMAD3):c.699C>G (p.Cys233Trp) rs2140313911
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe) rs2140313919
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.716_723delinsTT (p.Glu239_Asn241delinsVal)
NM_005902.4(SMAD3):c.719T>A (p.Leu240Gln)
NM_005902.4(SMAD3):c.71A>G (p.Asn24Ser)
NM_005902.4(SMAD3):c.720_743del (p.Asn241_Phe248del) rs1566999378
NM_005902.4(SMAD3):c.721A>C (p.Asn241His)
NM_005902.4(SMAD3):c.727C>G (p.Arg243Gly) rs886039137
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.728G>C (p.Arg243Pro) 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.734G>A (p.Gly245Glu) rs1963047822
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
NM_005902.4(SMAD3):c.744C>A (p.Phe248Leu)
NM_005902.4(SMAD3):c.744C>G (p.Phe248Leu)
NM_005902.4(SMAD3):c.763A>T (p.Met255Leu)
NM_005902.4(SMAD3):c.764T>G (p.Met255Arg) rs886038899
NM_005902.4(SMAD3):c.769G>A (p.Val257Met) rs1963049659
NM_005902.4(SMAD3):c.773A>C (p.Asp258Ala) rs1566999483
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.781A>G (p.Thr261Ala) rs1060500764
NM_005902.4(SMAD3):c.786_800del (p.Asp262_Ser266del) rs863223753
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.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.790_792dup (p.Ser264dup) rs2140314233
NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del)
NM_005902.4(SMAD3):c.805T>C (p.Phe269Leu) rs1595956712
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
NM_005902.4(SMAD3):c.808T>C (p.Cys270Arg) rs2140314294
NM_005902.4(SMAD3):c.814G>A (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
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.839A>G (p.Asn280Ser) rs1433790279
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val) rs1963053530
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln) rs886038991
NM_005902.4(SMAD3):c.854T>C (p.Leu285Pro)
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.864_866dup (p.Arg288_His289insGln)
NM_005902.4(SMAD3):c.871+3A>G rs1595956841
NM_005902.4(SMAD3):c.871+5G>A rs1963055122
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
NM_005902.4(SMAD3):c.872-15C>A rs747102986
NM_005902.4(SMAD3):c.872-6_872-5del rs1963174213
NM_005902.4(SMAD3):c.880G>A (p.Val294Met) rs863223744
NM_005902.4(SMAD3):c.881T>C (p.Val294Ala)
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.907G>A (p.Val303Ile) rs1060500767
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
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.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.947A>C (p.Gln316Pro) rs863223745
NM_005902.4(SMAD3):c.947A>G (p.Gln316Arg)
NM_005902.4(SMAD3):c.955A>G (p.Asn319Asp) rs1595960455
NM_005902.4(SMAD3):c.956A>G (p.Asn319Ser) rs1057524771
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552
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)
Single allele

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