ClinVar Miner

List of variants in gene PTEN reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.392dup (p.Gly132fs) rs1859976874
NM_000314.8(PTEN):c.436_437insG (p.Leu146fs)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.748_751dup (p.Gly251fs) rs780264945
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273

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