ClinVar Miner

List of variants in gene SMAD3 studied for not specified

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_005902.4(SMAD3):c.1154+23A>C rs55678244 0.00283
NM_005902.4(SMAD3):c.207-38931G>A rs150350777 0.00267
NM_005902.4(SMAD3):c.316A>G (p.Met106Val) rs138550573 0.00099
NM_005902.4(SMAD3):c.207-26779C>T rs539491144 0.00041
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_005902.4(SMAD3):c.607+7C>T rs200998367 0.00036
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
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.207-13C>T rs200548744 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_005902.4(SMAD3):c.1009+7G>A rs772242555 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.207-26869C>A rs958007552 0.00006
NM_005902.4(SMAD3):c.990C>T (p.Thr330=) rs774470515 0.00006
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.608-15T>C rs371614939 0.00004
NM_005902.4(SMAD3):c.872-12G>C rs768529580 0.00004
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.207-4G>A rs1319147414 0.00003
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu) rs772510704 0.00003
NM_005902.4(SMAD3):c.400+5G>T rs766829176 0.00002
NM_005902.4(SMAD3):c.608-4G>A rs372064378 0.00002
NM_005902.4(SMAD3):c.1009+11C>T rs774180178 0.00001
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp) rs745387614 0.00001
NM_005902.4(SMAD3):c.381C>T (p.Tyr127=) rs886038971 0.00001
NM_005902.4(SMAD3):c.462C>T (p.Asp154=) rs756124653 0.00001
NM_005902.4(SMAD3):c.501C>T (p.Pro167=) rs138395233 0.00001
NM_005902.4(SMAD3):c.532+8C>T rs370879516 0.00001
NM_005902.4(SMAD3):c.603C>T (p.Asp201=) rs774814963 0.00001
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe) rs886038567 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr) rs1962535460
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg) rs1962538901
NM_005902.4(SMAD3):c.400+14C>T rs1555412095
NM_005902.4(SMAD3):c.441G>A (p.Pro147=) rs140275295
NM_005902.4(SMAD3):c.45G>C (p.Leu15=)
NM_005902.4(SMAD3):c.533-589G>A rs112991343
NM_005902.4(SMAD3):c.539del (p.Pro180fs) rs1555412294
NM_005902.4(SMAD3):c.543C>T (p.Pro181=) rs1026881356
NM_005902.4(SMAD3):c.658+18C>A rs1057521458
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln) rs886038991
NM_005902.4(SMAD3):c.872-15C>T rs747102986
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552

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