ClinVar Miner

List of variants in gene SMAD3 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 19
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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.207-14637C>T rs17293632 0.17469
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.207-26779C>T rs539491144 0.00041
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_005902.4(SMAD3):c.207-13C>T rs200548744 0.00010
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.206+11G>T rs763321881 0.00001
NM_005902.4(SMAD3):c.658+15G>C rs1296574345 0.00001
NM_005902.4(SMAD3):c.1059C>T (p.Ala353=) rs767649515
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu) rs1962536528
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.539del (p.Pro180fs) rs1555412294
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137

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