ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic for Neoplasm of ovary

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995

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