ClinVar Miner

List of variants in gene PTEN reported as pathogenic by German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.102del (p.Met35fs) rs1564814454
NM_000314.7(PTEN):c.1034_1050del (p.Leu345fs) rs1564570283
NM_000314.7(PTEN):c.209dup (p.Cys71Leufs) rs1564826829
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.44dup (p.Tyr16fs) rs1564801750
NM_000314.7(PTEN):c.460_461dup (p.Tyr155fs) rs1564830444
NM_000314.7(PTEN):c.626del (p.Gly209fs) rs1564838034
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.715del (p.Met239fs) rs1564566861
NM_000314.7(PTEN):c.740T>G (p.Leu247Ter) rs1057519368
NM_000314.7(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) rs146650273

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