ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic for not provided

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.7(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.7(PTEN):c.113C>G (p.Pro38Arg) rs1064796886
NM_000314.7(PTEN):c.1212A>G (p.Ter404Trp) rs876660879
NM_000314.7(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.7(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.7(PTEN):c.209+2dup rs1064794925
NM_000314.7(PTEN):c.242T>G (p.Phe81Cys) rs876661177
NM_000314.7(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.308_309del (p.Pro103fs) rs1554898088
NM_000314.7(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.7(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.7(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.7(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.7(PTEN):c.401T>G (p.Met134Arg) rs1085308046
NM_000314.7(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.7(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.46T>G (p.Tyr16Asp) rs1064796078
NM_000314.7(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.7(PTEN):c.479C>T (p.Thr160Ile) rs1554898225
NM_000314.7(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.528T>G (p.Tyr176Ter) rs1057522285
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.7(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.7(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.7(PTEN):c.942_943AT[1] (p.Tyr315fs) rs1064796128
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765

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