ClinVar Miner

List of variants in gene PTEN studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-326G>C rs2943772 0.99984
NC_000010.11:g.87864104del rs71022512 0.99907
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_000314.8(PTEN):c.80-96A>G rs1903858 0.38960
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
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.79+35C>T rs190707033 0.00130
NM_000314.8(PTEN):c.-461G>A rs1209261790 0.00114
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu) rs398123328 0.00068
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00039
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-701G>A rs1554890059 0.00019
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.493-42A>G rs765083317 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.8(PTEN):c.-734G>A rs786205432 0.00013
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.254-39G>T rs35034871 0.00011
NM_000314.8(PTEN):c.-111G>T rs761148721 0.00010
NM_000314.8(PTEN):c.-290A>T rs985226639 0.00010
NM_000314.8(PTEN):c.253+66A>G rs377719086 0.00010
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.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_000314.8(PTEN):c.-105G>T rs1316552000 0.00003
NM_000314.8(PTEN):c.-28C>T rs764917503 0.00003
NM_000314.8(PTEN):c.-731C>T rs886039462 0.00003
NM_000314.8(PTEN):c.-742G>A rs876661008 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.79+4229A>T rs973032283 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.-728C>T rs786204870 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.164+28A>G rs754309090 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000314.8(PTEN):c.456A>G (p.Leu152=) rs779626613 0.00002
NM_000314.8(PTEN):c.492+7414A>G rs1370122389 0.00002
NM_000314.8(PTEN):c.-216C>T rs1858381810 0.00001
NM_000314.8(PTEN):c.-692C>T rs1554890066 0.00001
NM_000314.8(PTEN):c.-732G>C rs1399617046 0.00001
NM_000314.8(PTEN):c.-740G>A rs888482160 0.00001
NM_000314.8(PTEN):c.-741C>T rs1310141519 0.00001
NM_000314.8(PTEN):c.1003C>A (p.Arg335=) rs121909231 0.00001
NM_000314.8(PTEN):c.1008C>T (p.Tyr336=) rs786201816 0.00001
NM_000314.8(PTEN):c.1050A>G (p.Thr350=) rs769324650 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.164+12T>C rs1057521654 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-48_210-44del rs765853588 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.253+14T>A rs1057520635 0.00001
NM_000314.8(PTEN):c.254-17T>G rs1057520819 0.00001
NM_000314.8(PTEN):c.258A>G (p.Ala86=) rs587780710 0.00001
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg) rs757087471 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.606T>C (p.Thr202=) rs1242879806 0.00001
NM_000314.8(PTEN):c.635-14A>G rs758742080 0.00001
NM_000314.8(PTEN):c.635-8C>A rs780495238 0.00001
NM_000314.8(PTEN):c.711G>A (p.Lys237=) rs773353820 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.783G>A (p.Gln261=) rs760146269 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000314.8(PTEN):c.802-17T>C rs1057520419 0.00001
NM_000314.8(PTEN):c.858C>G (p.Thr286=) rs876660443 0.00001
NM_000314.8(PTEN):c.885A>G (p.Leu295=) rs587780713 0.00001
NM_000314.8(PTEN):c.93C>T (p.Asn31=) rs1170214930 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.*2T>A
NM_000314.8(PTEN):c.*6T>C rs1064794975
NM_000314.8(PTEN):c.*78T>G rs1554826080
NM_000314.8(PTEN):c.-12A>T rs753142719
NM_000314.8(PTEN):c.-313A>C rs1014763428
NM_000314.8(PTEN):c.-367del rs1554890188
NM_000314.8(PTEN):c.-462G>A rs886047388
NM_000314.8(PTEN):c.-500GGC[4] rs1237307954
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.-512G>A rs886047387
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-534_-533delinsTT rs1554890129
NM_000314.8(PTEN):c.-546GGC[6] rs34413673
NM_000314.8(PTEN):c.-696C>G rs1554890065
NM_000314.8(PTEN):c.-720G>A rs960387107
NM_000314.8(PTEN):c.-729C>T rs1554890049
NM_000314.8(PTEN):c.-730C>G rs786204869
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-735G>C rs886047384
NM_000314.8(PTEN):c.-751G>T
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-771G>A rs786202516
NM_000314.8(PTEN):c.-773C>T rs922418729
NM_000314.8(PTEN):c.-776G>C
NM_000314.8(PTEN):c.-777G>C rs1064795132
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.101C>T (p.Ala34Val) rs1554893773
NM_000314.8(PTEN):c.1026+10A>G rs767777911
NM_000314.8(PTEN):c.1026+28G>C
NM_000314.8(PTEN):c.1027-12T>G rs1057521732
NM_000314.8(PTEN):c.1027-17A>T rs1057520355
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1027-52_1027-48del
NM_000314.8(PTEN):c.1064C>T (p.Ser355Leu) rs2132289421
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.1125T>C (p.Asp375=) rs1057524567
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1170A>G (p.Glu390=) rs1057524010
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.150T>C (p.Ile50=)
NM_000314.8(PTEN):c.165-17G>C rs898943632
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.193T>A (p.Tyr65Asn) rs587780005
NM_000314.8(PTEN):c.197A>T (p.Lys66Met) rs1564826805
NM_000314.8(PTEN):c.209+17A>G rs1057520524
NM_000314.8(PTEN):c.209+3A>G rs786202612
NM_000314.8(PTEN):c.209+7A>G rs1554897284
NM_000314.8(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.8(PTEN):c.210-3dup rs1064794464
NM_000314.8(PTEN):c.210-42T>C
NM_000314.8(PTEN):c.210-47C>T rs1444454603
NM_000314.8(PTEN):c.210-6T>C rs1057521210
NM_000314.8(PTEN):c.210-7C>T
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.8(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.8(PTEN):c.226_228del (p.Tyr76del) rs1554897864
NM_000314.8(PTEN):c.228T>C (p.Tyr76=) rs1554897866
NM_000314.8(PTEN):c.234C>A (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.253+109_253+110insTCTTA rs1799734
NM_000314.8(PTEN):c.253+18_253+22del rs1554897892
NM_000314.8(PTEN):c.253+20_253+26del rs1554897894
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.254-62A>C rs1052364593
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.301_324dup (p.Leu108_Asp109insIleLysProPheCysGluAspLeu)
NM_000314.8(PTEN):c.354T>C (p.His118=) rs1564830090
NM_000314.8(PTEN):c.369C>T (p.His123=) rs1085308045
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000314.8(PTEN):c.402_404del (p.Met134del) rs1554898152
NM_000314.8(PTEN):c.410C>G (p.Ala137Gly)
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.8(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.477G>A (p.Arg159=)
NM_000314.8(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.8(PTEN):c.492+14T>A rs1057523132
NM_000314.8(PTEN):c.492+14dup rs1064793690
NM_000314.8(PTEN):c.492+16A>G rs1057522052
NM_000314.8(PTEN):c.492+3A>G rs1564830529
NM_000314.8(PTEN):c.493-13T>C rs1554900488
NM_000314.8(PTEN):c.493-19T>C rs1554900486
NM_000314.8(PTEN):c.493-34dup
NM_000314.8(PTEN):c.493-46G>A
NM_000314.8(PTEN):c.493-4C>T rs1057522555
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.500C>G (p.Thr167Ser)
NM_000314.8(PTEN):c.504T>G (p.Ile168Met)
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.8(PTEN):c.528T>C (p.Tyr176=) rs1057522285
NM_000314.8(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.8(PTEN):c.540C>T (p.Tyr180=) rs786202733
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.615G>A (p.Met205Ile) rs1554900653
NM_000314.8(PTEN):c.634+17C>T rs1057522469
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.634+7G>A
NM_000314.8(PTEN):c.635-18A>G rs1057520441
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.8(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
NM_000314.8(PTEN):c.672A>G (p.Ile224Met) rs786204946
NM_000314.8(PTEN):c.67T>C (p.Leu23=)
NM_000314.8(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.8(PTEN):c.725A>T (p.Glu242Val) rs1860545768
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_000314.8(PTEN):c.78C>A (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.79+30C>T
NM_000314.8(PTEN):c.79+33T>A
NM_000314.8(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.801+15T>C rs1057520830
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-18_802-14del rs786204879
NM_000314.8(PTEN):c.802-18_802-16del rs1354236529
NM_000314.8(PTEN):c.802-23_802-13del rs1064794381
NM_000314.8(PTEN):c.802-24T>C
NM_000314.8(PTEN):c.802-29_802-20del rs1064793331
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.802-6T>G rs1057522284
NM_000314.8(PTEN):c.802-6_802-3dup
NM_000314.8(PTEN):c.802-9T>G rs1057520354
NM_000314.8(PTEN):c.808A>G (p.Met270Val) rs1554825502
NM_000314.8(PTEN):c.824T>C (p.Val275Ala)
NM_000314.8(PTEN):c.831A>G (p.Thr277=) rs376886779
NM_000314.8(PTEN):c.835T>C (p.Phe279Leu)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
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.935A>G (p.Asp312Gly) rs863224667
NM_000314.8(PTEN):c.938del (p.Lys313fs) rs1554825571
NM_000314.8(PTEN):c.951A>C (p.Val317=) rs876659993
NM_000314.8(PTEN):c.95T>C (p.Ile32Thr) rs1057518329
NM_000314.8(PTEN):c.960A>G (p.Leu320=) rs886038279
NM_000314.8(PTEN):c.984_998dup (p.Lys330_Asn334dup) rs1057518539
NM_000314.8(PTEN):c.993C>T (p.Asp331=) rs2132283468

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