ClinVar Miner

List of variants in gene SMAD3 studied for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 377
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_005902.4(SMAD3):c.*2227G>A rs11638476 0.31592
NM_005902.4(SMAD3):c.*2793C>T rs3743342 0.19499
NM_005902.4(SMAD3):c.*2282C>T rs12595334 0.19274
NM_005902.4(SMAD3):c.*1423C>T rs2278670 0.19250
NM_005902.4(SMAD3):c.*1105G>A rs8031440 0.19244
NM_005902.4(SMAD3):c.*1245G>A rs8031627 0.19233
NM_005902.4(SMAD3):c.*402C>T rs8025774 0.19194
NM_005902.4(SMAD3):c.207-14637C>T rs17293632 0.17469
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_005902.4(SMAD3):c.*843G>A rs55970514 0.01590
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_005902.4(SMAD3):c.*419G>T rs78329172 0.01117
NM_005902.4(SMAD3):c.*2229A>G rs188412401 0.01091
NM_005902.4(SMAD3):c.*3037C>G rs145645018 0.00655
NM_005902.4(SMAD3):c.*1777_*1778insCCT rs369386357 0.00314
NM_005902.4(SMAD3):c.*291G>A rs146287966 0.00270
NM_005902.4(SMAD3):c.*579del rs550707472 0.00264
NM_005902.4(SMAD3):c.*301C>T rs72661159 0.00215
NM_005902.4(SMAD3):c.*2013T>C rs183913368 0.00214
NM_005902.4(SMAD3):c.*1880C>T rs144205938 0.00153
NM_005902.4(SMAD3):c.*1181C>T rs72661160 0.00149
NM_005902.4(SMAD3):c.*1255A>G rs569581429 0.00129
NM_005902.4(SMAD3):c.*2547C>T rs72661161 0.00096
NM_005902.4(SMAD3):c.*654A>G rs571689385 0.00088
NM_005902.4(SMAD3):c.*1805T>C rs191114875 0.00086
NM_005902.4(SMAD3):c.*2242A>G rs117707762 0.00083
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.*1325T>C rs139620908 0.00052
NM_005902.4(SMAD3):c.*2444A>G rs145102966 0.00052
NM_005902.4(SMAD3):c.*2995G>A rs140694679 0.00052
NM_005902.4(SMAD3):c.*318G>A rs79368607 0.00052
NM_005902.4(SMAD3):c.*2028T>C rs549152312 0.00041
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.*798G>A rs138327222 0.00037
NM_005902.4(SMAD3):c.207-26779C>T rs539491144 0.00037
NM_005902.4(SMAD3):c.*2046T>C rs761162475 0.00028
NM_005902.4(SMAD3):c.*1165A>G rs567052377 0.00026
NM_005902.4(SMAD3):c.*2285G>A rs62014609 0.00026
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.*1217A>G rs150600147 0.00024
NM_005902.4(SMAD3):c.-244G>A rs886051374 0.00022
NM_005902.4(SMAD3):c.*2786T>A rs775905689 0.00020
NM_005902.4(SMAD3):c.*665T>A rs186841203 0.00019
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.687G>A (p.Pro229=) rs138940179 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_005902.4(SMAD3):c.*2403C>T rs755985886 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.*51G>C rs368655036 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.*250C>A rs754034578 0.00008
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.*626C>T rs886051385 0.00005
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.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.607+4A>C rs1465673227 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.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.1155-11A>G rs184839478 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.*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.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.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.102G>T (p.Ala34=) rs748990258 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.334G>A (p.Ala112Thr) rs770798158 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.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.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.999G>A (p.Lys333=) rs781081744 0.00002
NM_005902.3(SMAD3):c.*4658T>C rs548318946 0.00001
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.*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.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.1143A>G (p.Gly381=) rs992420866 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.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.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.363C>T (p.Cys121=) rs760286714 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.408T>C (p.Pro136=) rs1256814354 0.00001
NM_005902.4(SMAD3):c.414G>A (p.Val138=) rs771802144 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.455C>A (p.Pro152Gln) rs375574124 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.603C>T (p.Asp201=) rs774814963 0.00001
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr) rs760091844 0.00001
NM_005902.4(SMAD3):c.633G>A (p.Pro211=) rs776009102 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.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.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.801G>A (p.Glu267=) rs764958567 0.00001
NM_005902.4(SMAD3):c.81G>A (p.Glu27=) rs755882401 0.00001
NM_005902.4(SMAD3):c.828T>C (p.Asn276=) rs1375211503 0.00001
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr) rs1348033858 0.00001
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.*3129C>T rs886051424
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.*3512A>G rs886051429
NM_005902.4(SMAD3):c.*3661G>A rs886051430
NM_005902.4(SMAD3):c.*3719C>T rs886051431
NM_005902.4(SMAD3):c.*3738C>T rs886051432
NM_005902.4(SMAD3):c.*4195G>A rs886051433
NM_005902.4(SMAD3):c.*4445C>T rs886051434
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.*609A>G rs564556206
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.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.100G>A (p.Ala34Thr) rs2140188906
NM_005902.4(SMAD3):c.1011A>G (p.Gly337=)
NM_005902.4(SMAD3):c.1017C>T (p.Asn339=) rs1963248432
NM_005902.4(SMAD3):c.1040A>C (p.Glu347Ala)
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
NM_005902.4(SMAD3):c.1062G>A (p.Gln354=) 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.1081G>T (p.Glu361Ter) rs387906856
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) rs1595962708
NM_005902.4(SMAD3):c.1103G>A (p.Arg368Gln)
NM_005902.4(SMAD3):c.110G>A (p.Ser37Asn)
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.1151A>G (p.Tyr384Cys) rs2140323808
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1154+3C>A
NM_005902.4(SMAD3):c.1155-13C>T
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr) rs1567005489
NM_005902.4(SMAD3):c.1179C>T (p.Pro393=) rs2140327732
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
NM_005902.4(SMAD3):c.1199T>C (p.Leu400Pro)
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser) rs1555414491
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg) rs886038961
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His) rs762012589
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1268G>C (p.Ser423Thr)
NM_005902.4(SMAD3):c.155A>G (p.Glu52Gly)
NM_005902.4(SMAD3):c.164T>G (p.Ile55Ser)
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.187A>G (p.Lys63Glu)
NM_005902.4(SMAD3):c.200T>G (p.Ile67Ser)
NM_005902.4(SMAD3):c.206+1G>C rs770098673
NM_005902.4(SMAD3):c.206+4G>T
NM_005902.4(SMAD3):c.207-26806G>T
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) rs886041046
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp) rs750707381
NM_005902.4(SMAD3):c.261C>T (p.Ile87=) rs1421383761
NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup) rs1595941653
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.269G>T (p.Arg90Leu)
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu) rs1057518977
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu) rs1962536528
NM_005902.4(SMAD3):c.295A>G (p.Ser99Gly)
NM_005902.4(SMAD3):c.303_304insTC (p.Glu102fs)
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) rs1962537574
NM_005902.4(SMAD3):c.309A>T (p.Leu103=) rs1065080
NM_005902.4(SMAD3):c.313del (p.Ala105fs) rs587776882
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) rs1301737199
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.334_335delinsCT (p.Ala112Leu) rs1595941823
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) rs387906854
NM_005902.4(SMAD3):c.344T>C (p.Met115Thr)
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.375C>T (p.Tyr125=)
NM_005902.4(SMAD3):c.380A>G (p.Tyr127Cys)
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg) rs2140294309
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.401-6G>C
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
NM_005902.4(SMAD3):c.441G>A (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.455C>T (p.Pro152Leu)
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val) rs2140188791
NM_005902.4(SMAD3):c.484G>A (p.Glu162Lys)
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser) rs1254152984
NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
NM_005902.4(SMAD3):c.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.533-10T>C
NM_005902.4(SMAD3):c.533-5C>T
NM_005902.4(SMAD3):c.534G>A (p.Glu178=) rs2140296772
NM_005902.4(SMAD3):c.540A>C (p.Pro180=)
NM_005902.4(SMAD3):c.541C>T (p.Pro181Ser)
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
NM_005902.4(SMAD3):c.567A>G (p.Gly189=)
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
NM_005902.4(SMAD3):c.591C>T (p.Asn197=) rs2140296869
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly) rs1416321033
NM_005902.4(SMAD3):c.608-4_611del
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.608G>A (p.Gly203Asp) rs1962720069
NM_005902.4(SMAD3):c.614C>T (p.Pro205Leu)
NM_005902.4(SMAD3):c.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.660C>A (p.Asp220Glu)
NM_005902.4(SMAD3):c.663G>A (p.Leu221=)
NM_005902.4(SMAD3):c.663_664insGGA (p.Leu221_Gln222insGly)
NM_005902.4(SMAD3):c.665_666insCAGTTACCTACTGCG (p.Gln222delinsHisSerTyrLeuLeuArg)
NM_005902.4(SMAD3):c.668del (p.Pro223fs) rs1595956416
NM_005902.4(SMAD3):c.672T>C (p.Val224=)
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
NM_005902.4(SMAD3):c.68A>G (p.Gln23Arg)
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe) rs2140313919
NM_005902.4(SMAD3):c.702C>T (p.Ser234=)
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.735G>A (p.Gly245=)
NM_005902.4(SMAD3):c.736del (p.Glu246fs) rs1595956538
NM_005902.4(SMAD3):c.739A>T (p.Thr247Ser)
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs) rs587776880
NM_005902.4(SMAD3):c.748G>A (p.Ala250Thr)
NM_005902.4(SMAD3):c.756G>A (p.Gln252=) rs1278345256
NM_005902.4(SMAD3):c.762C>A (p.Ser254=) rs1963049270
NM_005902.4(SMAD3):c.770_771del (p.Val257fs)
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile) rs387906851
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser) rs863223739
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.789del (p.Ser264fs) rs1963050712
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
NM_005902.4(SMAD3):c.807C>T (p.Phe269=) rs1963052117
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs) rs2140314299
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.821T>A (p.Leu274His)
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
NM_005902.4(SMAD3):c.831C>T (p.Val277=)
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys) rs387906852
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser) rs1433790279
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.860G>T (p.Arg287Leu)
NM_005902.4(SMAD3):c.871+1G>A rs1595956832
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215
NM_005902.4(SMAD3):c.872G>T (p.Gly291Val) rs1555413991
NM_005902.4(SMAD3):c.874del (p.Arg292fs) rs1595960347
NM_005902.4(SMAD3):c.897C>G (p.Ile299Met)
NM_005902.4(SMAD3):c.900_902dup (p.Gly301_Glu302insGly)
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.927T>C (p.Ser309=)
NM_005902.4(SMAD3):c.929A>G (p.Asp310Gly)
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter) rs1595960447
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.983C>T (p.Pro328Leu)
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623
NM_005902.4(SMAD3):c.993C>T (p.Val331=)
NM_005902.4(SMAD3):c.99G>A (p.Lys33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.