ClinVar Miner

List of variants in gene PTEN reported as pathogenic by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Total variants: 6
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HGVS dbSNP
NM_000314.7(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.7(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) rs146650273
NM_001304718.2(PTEN):c.-260del rs786204900

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