ClinVar Miner

List of variants in gene PTEN studied for cancer

Included ClinVar conditions (475):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.923G>A (p.Arg308His) rs786201507 0.00001
NM_000314.4(PTEN):c.-380_-378GGC[5]
NM_000314.8(PTEN):c.*667A>T rs886047409
NM_000314.8(PTEN):c.-326=
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-752GGC[4] rs933847861
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1012del (p.Ser338fs) rs1564568660
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.102del (p.Met35fs) rs1564814454
NM_000314.8(PTEN):c.1034_1050del (p.Leu345fs) rs1564570283
NM_000314.8(PTEN):c.1083T>C (p.Ser361=) rs2132289564
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.209dup (p.Cys71Leufs) rs1564826829
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.218A>G (p.Glu73Gly) rs2132238743
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.254-13_254-12del
NM_000314.8(PTEN):c.254-16dup
NM_000314.8(PTEN):c.254-22T>A
NM_000314.8(PTEN):c.254-23C>A
NM_000314.8(PTEN):c.254-2_254-1del
NM_000314.8(PTEN):c.254-5dup
NM_000314.8(PTEN):c.254-7A>T
NM_000314.8(PTEN):c.254-8del
NM_000314.8(PTEN):c.255del (p.Ala86fs)
NM_000314.8(PTEN):c.260A>T (p.Gln87Leu)
NM_000314.8(PTEN):c.270del (p.Phe90fs) rs1114167678
NM_000314.8(PTEN):c.285del (p.Pro96fs)
NM_000314.8(PTEN):c.291G>A (p.Gln97=) rs1564829889
NM_000314.8(PTEN):c.298C>A (p.Leu100Ile)
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.306dup (p.Pro103fs)
NM_000314.8(PTEN):c.315T>A (p.Cys105Ter)
NM_000314.8(PTEN):c.315T>C (p.Cys105=)
NM_000314.8(PTEN):c.315T>G (p.Cys105Trp)
NM_000314.8(PTEN):c.318_319insT (p.Asp107Ter)
NM_000314.8(PTEN):c.318_320delinsCTT (p.Glu106_Asp107delinsAspPhe)
NM_000314.8(PTEN):c.318dup (p.Asp107fs)
NM_000314.8(PTEN):c.319G>C (p.Asp107His)
NM_000314.8(PTEN):c.319_320insT (p.Asp107fs)
NM_000314.8(PTEN):c.322C>T (p.Leu108Phe)
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.323_326delinsCC (p.Leu108fs)
NM_000314.8(PTEN):c.326A>C (p.Asp109Ala)
NM_000314.8(PTEN):c.331del (p.Trp111fs)
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.333dup (p.Leu112fs)
NM_000314.8(PTEN):c.334C>A (p.Leu112Ile)
NM_000314.8(PTEN):c.334C>G (p.Leu112Val) rs2132242699
NM_000314.8(PTEN):c.334del (p.Trp111_Leu112insTer)
NM_000314.8(PTEN):c.338del (p.Ser113fs)
NM_000314.8(PTEN):c.339T>A (p.Ser113Arg)
NM_000314.8(PTEN):c.339T>G (p.Ser113Arg)
NM_000314.8(PTEN):c.342A>C (p.Glu114Asp)
NM_000314.8(PTEN):c.343del (p.Asp115fs)
NM_000314.8(PTEN):c.344del (p.Asp115fs)
NM_000314.8(PTEN):c.345T>A (p.Asp115Glu) rs2132242798
NM_000314.8(PTEN):c.350del (p.Asn117fs)
NM_000314.8(PTEN):c.353A>T (p.His118Leu)
NM_000314.8(PTEN):c.356_357insC (p.Ala120fs)
NM_000314.8(PTEN):c.357dup (p.Ala120fs)
NM_000314.8(PTEN):c.360_361insC (p.Ala121fs)
NM_000314.8(PTEN):c.361G>A (p.Ala121Thr)
NM_000314.8(PTEN):c.361G>C (p.Ala121Pro)
NM_000314.8(PTEN):c.361del (p.Ala121fs)
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly) rs121909237
NM_000314.8(PTEN):c.364A>C (p.Ile122Leu)
NM_000314.8(PTEN):c.365T>A (p.Ile122Asn)
NM_000314.8(PTEN):c.366dup (p.His123fs)
NM_000314.8(PTEN):c.367dup (p.His123fs)
NM_000314.8(PTEN):c.368A>C (p.His123Pro)
NM_000314.8(PTEN):c.368del (p.His123fs)
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370dup (p.Cys124fs)
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
NM_000314.8(PTEN):c.372del (p.His123_Cys124insTer)
NM_000314.8(PTEN):c.375del (p.Ala126fs)
NM_000314.8(PTEN):c.376del (p.Ala126fs)
NM_000314.8(PTEN):c.380G>C (p.Gly127Ala)
NM_000314.8(PTEN):c.383del (p.Lys128fs)
NM_000314.8(PTEN):c.383dup (p.Arg130fs)
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.387_427del (p.Arg130fs)
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.390_391delinsGG (p.Thr131Ala)
NM_000314.8(PTEN):c.391dup (p.Thr131fs)
NM_000314.8(PTEN):c.393_394delinsAA (p.Gly132Ser)
NM_000314.8(PTEN):c.395G>C (p.Gly132Ala)
NM_000314.8(PTEN):c.396del (p.Gly132_Val133insTer)
NM_000314.8(PTEN):c.398_399del (p.Val133fs)
NM_000314.8(PTEN):c.398del (p.Val133fs)
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
NM_000314.8(PTEN):c.401_402delinsA (p.Met134fs)
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.403dup (p.Ile135fs)
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.406del (p.Cys136fs)
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.8(PTEN):c.407del (p.Cys136fs)
NM_000314.8(PTEN):c.409dup (p.Ala137fs)
NM_000314.8(PTEN):c.419T>C (p.Leu140Ser)
NM_000314.8(PTEN):c.422del (p.His141fs)
NM_000314.8(PTEN):c.424dup (p.Arg142fs)
NM_000314.8(PTEN):c.427_428insA (p.Gly143fs)
NM_000314.8(PTEN):c.427_428insCCAATGCTGCAACGAATGTCATCTTATTAAACC (p.Gly143delinsAlaAsnAlaAlaThrAsnValIleLeuLeuAsnArg)
NM_000314.8(PTEN):c.428_429delinsAA (p.Gly143Glu)
NM_000314.8(PTEN):c.428_430delinsC (p.Gly143fs)
NM_000314.8(PTEN):c.428del (p.Gly143fs) rs2132243612
NM_000314.8(PTEN):c.429C>A (p.Gly143=)
NM_000314.8(PTEN):c.429del (p.Lys144fs)
NM_000314.8(PTEN):c.430_431delinsC (p.Lys144fs)
NM_000314.8(PTEN):c.431A>C (p.Lys144Thr)
NM_000314.8(PTEN):c.431A>G (p.Lys144Arg)
NM_000314.8(PTEN):c.432A>C (p.Lys144Asn)
NM_000314.8(PTEN):c.432A>T (p.Lys144Asn)
NM_000314.8(PTEN):c.432_433insGA (p.Phe145fs)
NM_000314.8(PTEN):c.432_435delinsGAGG (p.Phe145Arg)
NM_000314.8(PTEN):c.432dup (p.Phe145fs)
NM_000314.8(PTEN):c.433T>A (p.Phe145Ile)
NM_000314.8(PTEN):c.433T>G (p.Phe145Val)
NM_000314.8(PTEN):c.433_436delinsGGG (p.Phe145fs)
NM_000314.8(PTEN):c.433_437delinsAGGG (p.Phe145fs)
NM_000314.8(PTEN):c.435_436inv (p.Phe145_Leu146delinsLeuIle)
NM_000314.8(PTEN):c.435delinsCA (p.Leu146fs)
NM_000314.8(PTEN):c.437_438del (p.Phe145_Leu146insTer)
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
NM_000314.8(PTEN):c.438_439delinsGG (p.Lys147Glu)
NM_000314.8(PTEN):c.439_440insG (p.Lys147fs)
NM_000314.8(PTEN):c.440del (p.Lys147fs) rs2132243722
NM_000314.8(PTEN):c.442_443insAGC (p.Ala148delinsGluPro)
NM_000314.8(PTEN):c.442del (p.Ala148fs)
NM_000314.8(PTEN):c.443del (p.Ala148fs)
NM_000314.8(PTEN):c.445del (p.Gln149fs)
NM_000314.8(PTEN):c.448G>A (p.Glu150Lys)
NM_000314.8(PTEN):c.448del (p.Glu150fs)
NM_000314.8(PTEN):c.44dup (p.Tyr16fs) rs1564801750
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000314.8(PTEN):c.454C>G (p.Leu152Val)
NM_000314.8(PTEN):c.454del (p.Ala151_Leu152insTer)
NM_000314.8(PTEN):c.456del (p.Asp153fs)
NM_000314.8(PTEN):c.457del (p.Asp153fs)
NM_000314.8(PTEN):c.459T>A (p.Asp153Glu)
NM_000314.8(PTEN):c.460_461dup (p.Tyr155fs) rs1564830444
NM_000314.8(PTEN):c.461_462insTC (p.Tyr155fs)
NM_000314.8(PTEN):c.461del (p.Phe154fs)
NM_000314.8(PTEN):c.462C>A (p.Phe154Leu)
NM_000314.8(PTEN):c.462C>T (p.Phe154=) rs1859982800
NM_000314.8(PTEN):c.462dup (p.Tyr155fs)
NM_000314.8(PTEN):c.463del (p.Tyr155fs) rs2132243942
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.465dup (p.Gly156fs)
NM_000314.8(PTEN):c.469_470del (p.Glu157fs)
NM_000314.8(PTEN):c.469_470insT (p.Glu157fs)
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
NM_000314.8(PTEN):c.472_474delinsAGG (p.Val158Arg)
NM_000314.8(PTEN):c.473T>C (p.Val158Ala)
NM_000314.8(PTEN):c.473del (p.Val158fs)
NM_000314.8(PTEN):c.475del (p.Arg159fs)
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys) rs1114167673
NM_000314.8(PTEN):c.478_479delinsGA (p.Thr160Asp)
NM_000314.8(PTEN):c.480C>A (p.Thr160=)
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
NM_000314.8(PTEN):c.481A>G (p.Arg161Gly)
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.491A>G (p.Lys164Arg)
NM_000314.8(PTEN):c.492+1del rs1564830522
NM_000314.8(PTEN):c.492+23del
NM_000314.8(PTEN):c.492+28T>C
NM_000314.8(PTEN):c.492+34T>C
NM_000314.8(PTEN):c.492+5del
NM_000314.8(PTEN):c.492+7del
NM_000314.8(PTEN):c.493-1856_493-1854delinsTGG
NM_000314.8(PTEN):c.493-1G>A rs786204862
NM_000314.8(PTEN):c.493-3148_493-1857del
NM_000314.8(PTEN):c.493-3C>T
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.626del (p.Gly209fs) rs1564838034
NM_000314.8(PTEN):c.634+14A>G rs762694325
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.672del (p.Tyr225fs) rs1564566774
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.715del (p.Met239fs) rs1564566861
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.740T>G (p.Leu247Ter) rs1057519368
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.742C>T (p.Pro248Ser) rs1564566931
NM_000314.8(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392

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