ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.13_14insC (p.Ile5fs) rs2132145444
NM_000314.8(PTEN):c.156_164+4delinsCAT
NM_000314.8(PTEN):c.165-9_170del rs1859801386
NM_000314.8(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.738del (p.Leu247fs)
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131

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