ClinVar Miner

List of variants in gene SMAD3 reported as uncertain significance for Loeys-Dietz syndrome

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Gene type:
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Total variants: 79
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HGVS dbSNP
NM_005902.4(SMAD3):c.*1315C>T rs886051391
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.*1800_*1803del rs141408841
NM_005902.4(SMAD3):c.*1819C>T rs886051406
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.*195G>T rs886051381
NM_005902.4(SMAD3):c.*2026T>C rs886051410
NM_005902.4(SMAD3):c.*2038G>T rs886051411
NM_005902.4(SMAD3):c.*2046T>C rs761162475
NM_005902.4(SMAD3):c.*2245C>A rs886051412
NM_005902.4(SMAD3):c.*2251C>A rs886051413
NM_005902.4(SMAD3):c.*2285G>A rs62014609
NM_005902.4(SMAD3):c.*2291C>A rs886051414
NM_005902.4(SMAD3):c.*2303G>C rs886051415
NM_005902.4(SMAD3):c.*2403C>T rs755985886
NM_005902.4(SMAD3):c.*2453C>A rs886051416
NM_005902.4(SMAD3):c.*2476A>C rs886051417
NM_005902.4(SMAD3):c.*250C>A rs754034578
NM_005902.4(SMAD3):c.*2573G>A rs886051418
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.*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>C rs769408016
NM_005902.4(SMAD3):c.*552G>T rs769408016
NM_005902.4(SMAD3):c.*573G>T rs886051384
NM_005902.4(SMAD3):c.*626C>T rs886051385
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.*925G>A rs886051389
NM_005902.4(SMAD3):c.*981C>A rs886051390
NM_005902.4(SMAD3):c.-100C>T rs886051379
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.-244G>A rs886051374
NM_005902.4(SMAD3):c.-265T>G rs886051373
NM_005902.4(SMAD3):c.-280C>A rs886051372
NM_005902.4(SMAD3):c.1010-12T>C rs773629535
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro) rs730880213
NM_005902.4(SMAD3):c.207-10G>A rs201912204
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296
NM_005902.4(SMAD3):c.607+9T>A rs886051380
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304

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