ClinVar Miner

List of variants in gene SMAD3 reported as likely benign for Loeys-Dietz syndrome

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Gene type:
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Total variants: 39
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HGVS dbSNP
NM_005902.3(SMAD3):c.*4658T>C rs548318946
NM_005902.4(SMAD3):c.*1165A>G rs567052377
NM_005902.4(SMAD3):c.*1181C>T rs72661160
NM_005902.4(SMAD3):c.*1217A>G rs150600147
NM_005902.4(SMAD3):c.*1255A>G rs569581429
NM_005902.4(SMAD3):c.*1325T>C rs139620908
NM_005902.4(SMAD3):c.*1777_*1778insCCT rs369386357
NM_005902.4(SMAD3):c.*1790G>A rs530788405
NM_005902.4(SMAD3):c.*1805T>C rs191114875
NM_005902.4(SMAD3):c.*1880C>T rs144205938
NM_005902.4(SMAD3):c.*2013T>C rs183913368
NM_005902.4(SMAD3):c.*2028T>C rs549152312
NM_005902.4(SMAD3):c.*2229A>G rs188412401
NM_005902.4(SMAD3):c.*2242A>G rs117707762
NM_005902.4(SMAD3):c.*2444A>G rs145102966
NM_005902.4(SMAD3):c.*2547C>T rs72661161
NM_005902.4(SMAD3):c.*291G>A rs146287966
NM_005902.4(SMAD3):c.*2995G>A rs140694679
NM_005902.4(SMAD3):c.*301C>T rs72661159
NM_005902.4(SMAD3):c.*3037C>G rs145645018
NM_005902.4(SMAD3):c.*3129C>T rs886051424
NM_005902.4(SMAD3):c.*318G>A rs79368607
NM_005902.4(SMAD3):c.*419G>T rs78329172
NM_005902.4(SMAD3):c.*4445C>T rs886051434
NM_005902.4(SMAD3):c.*51G>C rs368655036
NM_005902.4(SMAD3):c.*579del rs550707472
NM_005902.4(SMAD3):c.*609A>G rs564556206
NM_005902.4(SMAD3):c.*654A>G rs571689385
NM_005902.4(SMAD3):c.*665T>A rs186841203
NM_005902.4(SMAD3):c.*789A>G rs191679355
NM_005902.4(SMAD3):c.*798G>A rs138327222
NM_005902.4(SMAD3):c.*843G>A rs55970514
NM_005902.4(SMAD3):c.-115C>T rs556470157
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005

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