ClinVar Miner

List of variants in gene PTEN reported by ClinGen PTEN Variant Curation Expert Panel

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_000314.6(PTEN):c.-903G>A rs1044322
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.-734G>A rs886047384
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-836C>T rs786204940
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1026+32T>G rs555895
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.1052_1054del (p.Val351del) rs587780003
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.1105G>A (p.Val369Ile) rs587782224
NM_000314.7(PTEN):c.1171C>T (p.Pro391Ser) rs786203911
NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.159A>G (p.Val53=) rs189583426
NM_000314.7(PTEN):c.165-1G>A rs786203847
NM_000314.7(PTEN):c.165-1G>C rs786203847
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.7(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.7(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.7(PTEN):c.209+3A>T rs786202612
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-39G>T rs35034871
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.7(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.304A>C (p.Lys102Gln) rs786202944
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.7(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.7(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.7(PTEN):c.360A>C (p.Ala120=) rs759485888
NM_000314.7(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.7(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.7(PTEN):c.492+1G>T rs1554898242
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.7(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
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.634+2T>C rs727504114
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.7(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.715A>G (p.Met239Val) rs786201758
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.75G>A (p.Leu25=) rs786201506
NM_000314.7(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.7(PTEN):c.79+20C>G rs587781291
NM_000314.7(PTEN):c.79+35C>T rs190707033
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.80-1G>C rs786204914
NM_000314.7(PTEN):c.801+23G>A rs116160352
NM_000314.7(PTEN):c.802-2A>T rs587782455
NM_000314.7(PTEN):c.802-2del rs886047397
NM_000314.7(PTEN):c.802-3T>A rs587780712
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000314.7(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.7(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.7(PTEN):c.841C>G (p.Pro281Ala) rs750705904
NM_000314.7(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.7(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.7(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.7(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.210-2_211del rs1554897854
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.801+1del rs1060500110
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.8(PTEN):c.94_96ATT[1] (p.Ile33del) rs1554893765
NM_001304718.2(PTEN):c.-274G>T rs1057519724
NM_001304718.2(PTEN):c.-310_-309delinsA rs1114167641
NM_001304718.2(PTEN):c.-359C>T rs397514560
NM_001304718.2(PTEN):c.-363C>G rs121909224
NM_001304718.2(PTEN):c.-447_-445dup rs587782641
NM_001304718.2(PTEN):c.-481dup rs1114167678
NM_001304718.2(PTEN):c.-541-5489T>C rs121909226
NM_001304718.2(PTEN):c.-541-5517C>G rs121909236
NM_001304718.2(PTEN):c.-58_-57delinsAT rs397515374
NM_001304718.2(PTEN):c.-602T>G rs121909225
NM_001304718.2(PTEN):c.-656_-655del rs587781912
NM_001304718.2(PTEN):c.-666dup rs587776671
NM_001304718.2(PTEN):c.-6del rs587776670
NM_001304718.2(PTEN):c.-80dup rs1114167632
NM_001304718.2(PTEN):c.-85del rs587776673
NM_001304718.2(PTEN):c.-92C>A rs397514559

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