ClinVar Miner

List of variants in gene SMAD3 reported as uncertain significance 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: 131
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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.*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.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.*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.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_005902.4(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.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.*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.100G>A (p.Ala34Thr) rs2140188906
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
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.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.169A>C (p.Thr57Pro) rs730880213
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
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.269G>A (p.Arg90His) rs886038803
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.317T>C (p.Met106Thr) rs1301737199
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg) rs2140294309
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe) rs2140313919
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser) rs863223739
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
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.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552

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