ClinVar Miner

List of variants in gene SMAD3 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
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.*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.*798G>A rs138327222 0.00037
NM_005902.4(SMAD3):c.*1165A>G rs567052377 0.00026
NM_005902.4(SMAD3):c.*1217A>G rs150600147 0.00024
NM_005902.4(SMAD3):c.*665T>A rs186841203 0.00019
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.*789A>G rs191679355 0.00004
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110 0.00003
NM_005902.3(SMAD3):c.*4658T>C rs548318946 0.00001
NM_005902.4(SMAD3):c.*1790G>A rs530788405
NM_005902.4(SMAD3):c.*3129C>T rs886051424
NM_005902.4(SMAD3):c.*4445C>T rs886051434
NM_005902.4(SMAD3):c.*609A>G rs564556206

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