ClinVar Miner

List of variants in gene SMAD3 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 80
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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.532+118G>A rs56336520 0.02492
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.533-510A>G rs186178811 0.01213
NM_005902.4(SMAD3):c.607+166G>A rs28719801 0.01168
NM_005902.4(SMAD3):c.1155-160C>T rs116727612 0.01167
NM_005902.4(SMAD3):c.*419G>T rs78329172 0.01117
NM_005902.4(SMAD3):c.1009+159T>C rs117564349 0.01098
NM_005902.4(SMAD3):c.*2229A>G rs188412401 0.01091
NM_005902.4(SMAD3):c.872-94C>T rs72661157 0.01010
NM_005902.4(SMAD3):c.658+58C>T rs56070432 0.00997
NM_005902.4(SMAD3):c.533-289G>A rs75579860 0.00979
NM_005902.4(SMAD3):c.1155-109C>T rs72661158 0.00963
NM_005902.4(SMAD3):c.1009+314C>T rs116235248 0.00752
NM_005902.4(SMAD3):c.659-287G>A rs115553157 0.00719
NM_005902.4(SMAD3):c.207-261A>G rs188879376 0.00645
NM_005902.4(SMAD3):c.533-690G>T rs189793484 0.00620
NM_005902.4(SMAD3):c.659-30A>G rs111328648 0.00609
NM_005902.4(SMAD3):c.*2489C>T rs80226876 0.00465
NM_005902.4(SMAD3):c.206+184A>G rs557761351 0.00456
NM_005902.4(SMAD3):c.206+74G>A rs142291101 0.00407
NM_005902.4(SMAD3):c.658+99C>T rs61258186 0.00316
NM_005902.4(SMAD3):c.1154+23A>C rs55678244 0.00283
NM_005902.4(SMAD3):c.*579del rs550707472 0.00264
NM_005902.4(SMAD3):c.*3126C>T rs62014610 0.00257
NM_005902.4(SMAD3):c.*301C>T rs72661159 0.00215
NM_005902.4(SMAD3):c.*1880C>T rs144205938 0.00153
NM_005902.4(SMAD3):c.316A>G (p.Met106Val) rs138550573 0.00099
NM_005902.4(SMAD3):c.*2547C>T rs72661161 0.00096
NM_005902.4(SMAD3):c.*1325T>C rs139620908 0.00052
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_005902.4(SMAD3):c.*798G>A rs138327222 0.00037
NM_005902.4(SMAD3):c.207-11C>T rs148430981 0.00026
NM_005902.4(SMAD3):c.747C>T (p.His249=) rs139907582 0.00025
NM_005902.4(SMAD3):c.872-19C>G rs74421858 0.00025
NM_005902.4(SMAD3):c.*1217A>G rs150600147 0.00024
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.687G>A (p.Pro229=) rs138940179 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 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.714C>T (p.Tyr238=) rs149443777 0.00009
NM_005902.4(SMAD3):c.783C>T (p.Thr261=) rs370620091 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.933C>T (p.Ser311=) rs771384141 0.00008
NM_005902.4(SMAD3):c.1128C>T (p.Phe376=) rs560348826 0.00007
NM_005902.4(SMAD3):c.510C>T (p.Ile170=) rs375925515 0.00006
NM_005902.4(SMAD3):c.990C>T (p.Thr330=) rs774470515 0.00006
NM_005902.4(SMAD3):c.1044C>T (p.Phe348=) rs751780616 0.00005
NM_005902.4(SMAD3):c.607+4A>C rs1465673227 0.00005
NM_005902.4(SMAD3):c.872-4G>A rs776577220 0.00005
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.1155-11A>G rs184839478 0.00004
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110 0.00003
NM_005902.4(SMAD3):c.708C>T (p.Ser236=) rs745390727 0.00003
NM_005902.4(SMAD3):c.210C>T (p.Ser70=) rs1224939970 0.00002
NM_005902.4(SMAD3):c.*6del rs772778568 0.00001
NM_005902.4(SMAD3):c.195C>T (p.Ile65=) rs368462984 0.00001
NM_005902.4(SMAD3):c.363C>T (p.Cys121=) rs760286714 0.00001
NM_005902.4(SMAD3):c.450C>T (p.Phe150=) rs755354518 0.00001
NM_005902.4(SMAD3):c.501C>T (p.Pro167=) rs138395233 0.00001
NM_005902.4(SMAD3):c.532+46G>A rs375065340 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_005902.4(SMAD3):c.607+34C>A rs561002374 0.00001
NM_005902.4(SMAD3):c.729C>T (p.Arg243=) rs569358776 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.*3658G>A
NM_005902.4(SMAD3):c.1002C>A (p.Ile334=) rs748178271
NM_005902.4(SMAD3):c.1059C>T (p.Ala353=) rs767649515
NM_005902.4(SMAD3):c.206+15G>C rs1595882218
NM_005902.4(SMAD3):c.480C>A (p.Ile160=) rs1566991810
NM_005902.4(SMAD3):c.532+158C>A rs140143645
NM_005902.4(SMAD3):c.532+16G>A rs1595942399
NM_005902.4(SMAD3):c.591C>T (p.Asn197=) rs2140296869
NM_005902.4(SMAD3):c.607+65_607+73del rs368492871
NM_005902.4(SMAD3):c.658+164C>T rs118128985
NM_005902.4(SMAD3):c.871+25C>A rs775394029
NM_005902.4(SMAD3):c.871+30del rs3214743

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