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: 214
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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.*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.207-26779C>T rs539491144 0.00041
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_005902.4(SMAD3):c.*798G>A rs138327222 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.207-10G>A rs201912204 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.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.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.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.*250C>A rs754034578 0.00006
NM_005902.4(SMAD3):c.*626C>T rs886051385 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.*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.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_005902.4(SMAD3):c.*1561A>T rs1275046716 0.00002
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) rs770798158 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.*804C>T rs1217099486 0.00001
NM_005902.4(SMAD3):c.*925G>A rs886051389 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.206+11G>T rs763321881 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr) rs1962721856 0.00001
NM_005902.4(SMAD3):c.658+15G>C rs1296574345 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.100G>A (p.Ala34Thr) rs2140188906
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
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.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr) rs1567005489
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
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.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro) rs730880213
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
NM_005902.4(SMAD3):c.206+1G>C rs770098673
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.266GCC[3] (p.Arg90dup) rs1595941653
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
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.304G>A (p.Glu102Lys) rs1962537574
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) rs1962537574
NM_005902.4(SMAD3):c.313del (p.Ala105fs) rs587776882
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) rs1301737199
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.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg) rs2140294309
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
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.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
NM_005902.4(SMAD3):c.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.668del (p.Pro223fs) rs1595956416
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe) rs2140313919
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.736del (p.Glu246fs) rs1595956538
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs) rs587776880
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.808_812delinsAGA (p.Cys270fs) rs2140314299
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys) rs387906852
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.871G>A (p.Gly291Arg) rs730880215
NM_005902.4(SMAD3):c.874del (p.Arg292fs) rs1595960347
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623

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