ClinVar Miner

List of variants in gene SMAD3 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 6
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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.207-26869C>A rs958007552 0.00006
NM_005902.4(SMAD3):c.1136G>T (p.Gly379Val) rs1963252361
NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs) rs1555414495
NM_005902.4(SMAD3):c.648del (p.His216fs) rs1555412629

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