ClinVar Miner

List of variants in gene PTEN reported as pathogenic for Cowden syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter) rs2132283619
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.170_185del (p.Phe56_Leu57insTer)
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.767_768del (p.Glu256fs) rs869312780
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273

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