ClinVar Miner

List of variants reported as likely pathogenic for Cowden syndrome 1

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Total variants: 14
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HGVS dbSNP
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.7(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.7(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_000314.8(PTEN):c.103A>C (p.Met35Leu)
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_001304718.2(PTEN):c.-447_-443dup rs1554898085
NM_001304718.2(PTEN):c.-451dup rs1554898083
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp) rs1576947658

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