ClinVar Miner

List of variants in gene PTEN reported as pathogenic for not specified

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Gene type:
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Total variants: 9
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NM_000314.7(PTEN):c.1027-2A>C rs1085308041
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.7(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.7(PTEN):c.938del (p.Lys313fs) rs1554825571
NM_000314.8(PTEN):c.722_723dup (p.Glu242fs) rs1060500115

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