ClinVar Miner

List of variants in gene PTEN studied for not specified

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP
NM_000314.6(PTEN):c.-1009C>G rs1554889883
NM_000314.6(PTEN):c.-1020C>T rs1064794803
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000314.6(PTEN):c.-1028C>G rs1064795849
NM_000314.6(PTEN):c.-1031C>T rs1064793240
NM_000314.6(PTEN):c.-866C>T rs1554889951
NM_000314.6(PTEN):c.-903G>A rs1044322
NM_000314.6(PTEN):c.-903G>C rs1044322
NM_000314.6(PTEN):c.-906G>A rs1064796116
NM_000314.6(PTEN):c.-918G>A rs1064794193
NM_000314.6(PTEN):c.-921G>A rs786203676
NM_000314.6(PTEN):c.-921G>C rs786203676
NM_000314.6(PTEN):c.-945G>A rs1064795081
NM_000314.6(PTEN):c.-952C>A rs1064794865
NM_000314.6(PTEN):c.-965G>A rs1064794742
NM_000314.6(PTEN):c.-975G>A rs587780001
NM_000314.6(PTEN):c.-975G>T rs587780001
NM_000314.6(PTEN):c.-987C>T rs786202097
NM_000314.6(PTEN):c.-988C>T rs1064794113
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.6(PTEN):c.802-3dupT rs34003473
NM_000314.7(PTEN):c.*5T>C rs1006891299
NM_000314.7(PTEN):c.*6T>C rs1064794975
NM_000314.7(PTEN):c.*78T>G rs1554826080
NM_000314.7(PTEN):c.*7T>G rs1064794700
NM_000314.7(PTEN):c.-105G>T rs1316552000
NM_000314.7(PTEN):c.-121A>G rs886047395
NM_000314.7(PTEN):c.-12A>T rs753142719
NM_000314.7(PTEN):c.-28C>T rs764917503
NM_000314.7(PTEN):c.-290A>T rs985226639
NM_000314.7(PTEN):c.-326= rs2943772
NM_000314.7(PTEN):c.-366del rs1554890188
NM_000314.7(PTEN):c.-499_-497GGC[4] rs1237307954
NM_000314.7(PTEN):c.-499_-497GGC[7] rs1237307954
NM_000314.7(PTEN):c.-511G>A rs886047387
NM_000314.7(PTEN):c.-533G>T rs886047385
NM_000314.7(PTEN):c.-533_-532delinsTT rs1554890129
NM_000314.7(PTEN):c.-545_-543GGC[6] rs34413673
NM_000314.7(PTEN):c.-663G>A rs1554890092
NM_000314.7(PTEN):c.-665G>A rs553371022
NM_000314.7(PTEN):c.-667C>T rs786204948
NM_000314.7(PTEN):c.-669_-667GGC[4] rs1376765196
NM_000314.7(PTEN):c.-670C>T rs1554890086
NM_000314.7(PTEN):c.-672T>C rs786204947
NM_000314.7(PTEN):c.-674C>A rs876661258
NM_000314.7(PTEN):c.-678C>T rs1131691255
NM_000314.7(PTEN):c.-682C>G rs1064793892
NM_000314.7(PTEN):c.-685G>A rs786204874
NM_000314.7(PTEN):c.-688G>C rs876661030
NM_000314.7(PTEN):c.-691C>T rs1554890066
NM_000314.7(PTEN):c.-695C>G rs1554890065
NM_000314.7(PTEN):c.-700G>A rs1554890059
NM_000314.7(PTEN):c.-713G>A rs587779989
NM_000314.7(PTEN):c.-719G>A rs960387107
NM_000314.7(PTEN):c.-727C>T rs786204870
NM_000314.7(PTEN):c.-728C>T rs1554890049
NM_000314.7(PTEN):c.-729C>G rs786204869
NM_000314.7(PTEN):c.-730C>T rs886039462
NM_000314.7(PTEN):c.-731G>C rs1399617046
NM_000314.7(PTEN):c.-733G>A rs786205432
NM_000314.7(PTEN):c.-734G>A rs886047384
NM_000314.7(PTEN):c.-734G>C rs886047384
NM_000314.7(PTEN):c.-739G>A rs888482160
NM_000314.7(PTEN):c.-740C>T rs1310141519
NM_000314.7(PTEN):c.-741G>A rs876661008
NM_000314.7(PTEN):c.-776G>C rs1064795132
NM_000314.7(PTEN):c.-801G>A rs876661166
NM_000314.7(PTEN):c.-820C>A rs1064793784
NM_000314.7(PTEN):c.-837C>T rs786201900
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1008C>T (p.Tyr336=) rs786201816
NM_000314.7(PTEN):c.101C>T (p.Ala34Val) rs1554893773
NM_000314.7(PTEN):c.1026+10A>G rs767777911
NM_000314.7(PTEN):c.1026+32T>G rs555895
NM_000314.7(PTEN):c.1027-12T>G rs1057521732
NM_000314.7(PTEN):c.1027-17A>T rs1057520355
NM_000314.7(PTEN):c.1027-2A>C rs1085308041
NM_000314.7(PTEN):c.1027-4C>G rs587782788
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.1125T>C (p.Asp375=) rs1057524567
NM_000314.7(PTEN):c.114T>G (p.Pro38=) rs748040144
NM_000314.7(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.7(PTEN):c.1170A>G (p.Glu390=) rs1057524010
NM_000314.7(PTEN):c.1171C>T (p.Pro391Ser) rs786203911
NM_000314.7(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.7(PTEN):c.164+12T>C rs1057521654
NM_000314.7(PTEN):c.165-17G>C rs898943632
NM_000314.7(PTEN):c.165-7T>C rs572375431
NM_000314.7(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.7(PTEN):c.193T>A (p.Tyr65Asn)
NM_000314.7(PTEN):c.197A>T (p.Lys66Met) rs1564826805
NM_000314.7(PTEN):c.209+17A>G rs1057520524
NM_000314.7(PTEN):c.209+7A>G rs1554897284
NM_000314.7(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.7(PTEN):c.210-17T>C rs750987148
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-47C>T rs1444454603
NM_000314.7(PTEN):c.210-48_210-44del rs765853588
NM_000314.7(PTEN):c.210-6T>C rs1057521210
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-8del rs1554897849
NM_000314.7(PTEN):c.210-9T>C rs751744545
NM_000314.7(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.7(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.7(PTEN):c.226_228del (p.Tyr76del) rs1554897864
NM_000314.7(PTEN):c.228T>C (p.Tyr76=) rs1554897866
NM_000314.7(PTEN):c.234C>A (p.Thr78=) rs35917308
NM_000314.7(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.7(PTEN):c.253+14T>A rs1057520635
NM_000314.7(PTEN):c.253+66A>G rs377719086
NM_000314.7(PTEN):c.254-17T>G rs1057520819
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-6C>T rs1057520525
NM_000314.7(PTEN):c.258A>G (p.Ala86=) rs587780710
NM_000314.7(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.7(PTEN):c.321T>C (p.Asp107=) rs372876243
NM_000314.7(PTEN):c.360A>C (p.Ala120=) rs759485888
NM_000314.7(PTEN):c.369C>T (p.His123=) rs1085308045
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.402_404del (p.Met134del) rs1554898152
NM_000314.7(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.7(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.7(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.7(PTEN):c.456A>G (p.Leu152=) rs779626613
NM_000314.7(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.7(PTEN):c.48T>C (p.Tyr16=) rs587782187
NM_000314.7(PTEN):c.492+14T>A rs1057523132
NM_000314.7(PTEN):c.492+14dup rs1064793690
NM_000314.7(PTEN):c.492+16A>G rs1057522052
NM_000314.7(PTEN):c.493-13T>C rs1554900488
NM_000314.7(PTEN):c.493-19T>C rs1554900486
NM_000314.7(PTEN):c.493-4C>T rs1057522555
NM_000314.7(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.7(PTEN):c.513G>A (p.Gln171=) rs1554900546
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.528T>C (p.Tyr176=) rs1057522285
NM_000314.7(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.615G>A (p.Met205Ile) rs1554900653
NM_000314.7(PTEN):c.634+17C>T rs1057522469
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.635-14A>G rs758742080
NM_000314.7(PTEN):c.635-18A>G rs1057520441
NM_000314.7(PTEN):c.635-1G>T rs876661024
NM_000314.7(PTEN):c.635-6A>G rs1009588340
NM_000314.7(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.7(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.7(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
NM_000314.7(PTEN):c.675T>C (p.Tyr225=) rs1057520900
NM_000314.7(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.7(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.7(PTEN):c.711G>A (p.Lys237=) rs773353820
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.7(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.783G>A (p.Gln261=) rs760146269
NM_000314.7(PTEN):c.78C>A (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.80-11A>G rs776590293
NM_000314.7(PTEN):c.80-96A>G rs1903858
NM_000314.7(PTEN):c.801+15T>C rs1057520830
NM_000314.7(PTEN):c.801+9T>C rs1060503839
NM_000314.7(PTEN):c.802-12T>C rs587781129
NM_000314.7(PTEN):c.802-17T>C rs1057520419
NM_000314.7(PTEN):c.802-3del rs34003473
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000314.7(PTEN):c.802-6T>G rs1057522284
NM_000314.7(PTEN):c.802-9T>G rs1057520354
NM_000314.7(PTEN):c.831A>G (p.Thr277=) rs376886779
NM_000314.7(PTEN):c.855A>G (p.Glu285=) rs751888926
NM_000314.7(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.7(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.885A>G (p.Leu295=) rs587780713
NM_000314.7(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.7(PTEN):c.900C>T (p.Ile300=) rs550122918
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.938del (p.Lys313fs) rs1554825571
NM_000314.7(PTEN):c.93C>T (p.Asn31=) rs1170214930
NM_000314.7(PTEN):c.95T>C (p.Ile32Thr) rs1057518329
NM_000314.7(PTEN):c.960A>G (p.Leu320=) rs886038279
NM_000314.7(PTEN):c.984_998dup (p.Lys330_Asn334dup) rs1057518539
NM_001126049.1(KLLN):c.-956G>T rs34149102
NM_001304717.5(PTEN):c.1322-23_1322-13del rs1064794381
NM_001304717.5(PTEN):c.1322-29_1322-20del rs1064793331
NM_001304717.5(PTEN):c.1322-4_1322-3dup rs34003473
NM_001304717.5(PTEN):c.730-3dup rs1064794464
NM_001304717.5(PTEN):c.773+18_773+22del rs1554897892
NM_001304717.5(PTEN):c.773+20_773+26del rs1554897894
Single allele rs71022512

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