ClinVar Miner

List of variants reported as likely pathogenic for PTEN hamartoma tumor syndrome by Mendelics

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Total variants: 7
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HGVS dbSNP
NM_000314.7(PTEN):c.209+2T>C rs878853937
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765

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