ClinVar Miner

List of variants in gene PTEN reported as pathogenic by OMIM

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.4(PTEN):c.335T>C (p.Leu112Pro) rs121909230
NM_000314.4(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.4(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.6(PTEN):c.-861G>T rs587776675
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.6(PTEN):c.253+1G>A rs587776667
NM_000314.6(PTEN):c.347_351delACAAT (p.Asp116Alafs) rs587776666
NM_000314.6(PTEN):c.362C>G (p.Ala121Gly) rs121909237
NM_000314.6(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.6(PTEN):c.492+2T>G rs1554898244
NM_000314.6(PTEN):c.507delC (p.Ser170Valfs) rs587776673
NM_000314.6(PTEN):c.55G>A (p.Asp19Asn) rs121909233
NM_000314.6(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.6(PTEN):c.586delC (p.His196Thrfs) rs587776670
NM_000314.6(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.6(PTEN):c.649G>A (p.Val217Ile) rs121909234
NM_000314.6(PTEN):c.696delA (p.Arg233Aspfs) rs587776669
NM_000314.6(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.6(PTEN):c.761_765delAAGTA (p.Lys254Argfs) rs606231169
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.392C>T (p.Thr131Ile) rs397514560
NM_000314.7(PTEN):c.405dup (p.Cys136Metfs) rs398123323
NM_000314.7(PTEN):c.40dup (p.Arg14Lysfs) rs587776671
NM_000314.7(PTEN):c.44_45dup (p.Tyr16Aspfs) rs1057524874
NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.7(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.534_535delTAinsAT (p.Tyr178Ter) rs397515374
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228
PTEN, 1-BP DEL, 179G
PTEN, 1-BP INS, 519T
PTEN, CYS124SER
PTEN, DEL

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