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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)	rs1554826024
NM_000314.8(PTEN):c.209+2T>C	rs878853937
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)	rs869312775
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	rs786204929
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)	rs797044910
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)	rs1554893765

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