ClinVar Miner

List of variants in gene PTEN reported by Color

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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP
NM_000314.6(PTEN):c.254-38delT rs77494260
NM_000314.6(PTEN):c.79+23_79+25delCTC rs1221062997
NM_000314.6(PTEN):c.79+31_79+34delCTTT rs1465716096
NM_000314.7(PTEN):c.*10T>A rs769236743
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.*10dup rs756681683
NM_000314.7(PTEN):c.*1A>T rs1452888068
NM_000314.7(PTEN):c.*20G>T rs1564570557
NM_000314.7(PTEN):c.*3T>A rs1554826068
NM_000314.7(PTEN):c.*5T>C rs1006891299
NM_000314.7(PTEN):c.-10G>A rs1564801603
NM_000314.7(PTEN):c.-14A>C rs755295390
NM_000314.7(PTEN):c.-4A>G rs1564801632
NM_000314.7(PTEN):c.-6C>A rs1554890322
NM_000314.7(PTEN):c.-7C>A rs1064795131
NM_000314.7(PTEN):c.-8T>C rs749356977
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1001A>G (p.Asn334Ser) rs1206321984
NM_000314.7(PTEN):c.1002C>G (p.Asn334Lys) rs1554825620
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1026+10A>G rs767777911
NM_000314.7(PTEN):c.1026+11_1026+15del rs1564568719
NM_000314.7(PTEN):c.1026+20T>G rs753190893
NM_000314.7(PTEN):c.1027-4C>G rs587782788
NM_000314.7(PTEN):c.1027-6C>T rs1374474745
NM_000314.7(PTEN):c.1028T>G (p.Val343Gly) rs1564570264
NM_000314.7(PTEN):c.1029G>A (p.Val343=) rs1393550059
NM_000314.7(PTEN):c.1035G>A (p.Leu345=) rs1564570289
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.1051G>A (p.Val351Ile) rs1564570314
NM_000314.7(PTEN):c.1052_1054del (p.Val351del) rs587780003
NM_000314.7(PTEN):c.1054G>C (p.Glu352Gln) rs1554826034
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.7(PTEN):c.1067A>T (p.Asn356Ile) rs1564570353
NM_000314.7(PTEN):c.1081A>C (p.Ser361Arg) rs1472028496
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.1115A>G (p.Asn372Ser) rs1370349057
NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.7(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.7(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.7(PTEN):c.1134A>G (p.Arg378=) rs1554826056
NM_000314.7(PTEN):c.1137T>C (p.Tyr379=) rs1295420243
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.1172C>A (p.Pro391His) rs1554826059
NM_000314.7(PTEN):c.1172C>T (p.Pro391Leu) rs1554826059
NM_000314.7(PTEN):c.1173T>G (p.Pro391=) rs1554826062
NM_000314.7(PTEN):c.1188G>A (p.Gln396=) rs786202062
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.146A>G (p.Asn49Ser) rs992385562
NM_000314.7(PTEN):c.164+12T>C rs1057521654
NM_000314.7(PTEN):c.164+4A>G rs1554893837
NM_000314.7(PTEN):c.165-17G>C rs898943632
NM_000314.7(PTEN):c.165-4T>C rs1554897247
NM_000314.7(PTEN):c.165-7T>C rs572375431
NM_000314.7(PTEN):c.165-8_165-4del rs760571273
NM_000314.7(PTEN):c.172G>A (p.Asp58Asn) rs1554897255
NM_000314.7(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.7(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.7(PTEN):c.184A>G (p.Lys62Glu) rs1564826779
NM_000314.7(PTEN):c.195C>T (p.Tyr65=) rs878853936
NM_000314.7(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.7(PTEN):c.209+7A>T 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.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-9T>C rs751744545
NM_000314.7(PTEN):c.213T>C (p.Cys71=) rs1554897858
NM_000314.7(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.7(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.242T>A (p.Phe81Tyr) rs876661177
NM_000314.7(PTEN):c.253+14T>A rs1057520635
NM_000314.7(PTEN):c.253+4_253+7del rs876659695
NM_000314.7(PTEN):c.254-17T>G rs1057520819
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-39G>A rs35034871
NM_000314.7(PTEN):c.254-39G>T rs35034871
NM_000314.7(PTEN):c.254-40A>G rs767049245
NM_000314.7(PTEN):c.254-6C>T rs1057520525
NM_000314.7(PTEN):c.25G>A (p.Val9Ile) rs1564801672
NM_000314.7(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.271G>A (p.Glu91Lys) rs1554898062
NM_000314.7(PTEN):c.288A>G (p.Pro96=) rs746661067
NM_000314.7(PTEN):c.291G>A (p.Gln97=) rs1564829889
NM_000314.7(PTEN):c.294A>G (p.Leu98=) rs770224289
NM_000314.7(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.7(PTEN):c.328C>G (p.Gln110Glu) rs1114167629
NM_000314.7(PTEN):c.329A>G (p.Gln110Arg) rs1564830013
NM_000314.7(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.7(PTEN):c.337A>C (p.Ser113Arg) rs1554898100
NM_000314.7(PTEN):c.33A>G (p.Arg11=) rs1564801695
NM_000314.7(PTEN):c.347A>G (p.Asp116Gly) rs1564830054
NM_000314.7(PTEN):c.349A>C (p.Asn117His) rs771310592
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.366T>C (p.Ile122=) rs1564830125
NM_000314.7(PTEN):c.408T>C (p.Cys136=) rs869312776
NM_000314.7(PTEN):c.411A>G (p.Ala137=) rs144545031
NM_000314.7(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.7(PTEN):c.425G>A (p.Arg142Gln) rs753630034
NM_000314.7(PTEN):c.440A>G (p.Lys147Arg) rs757087471
NM_000314.7(PTEN):c.441G>A (p.Lys147=) rs1564830394
NM_000314.7(PTEN):c.456A>G (p.Leu152=) rs779626613
NM_000314.7(PTEN):c.469del (p.Glu157fs) rs1554898210
NM_000314.7(PTEN):c.471A>G (p.Glu157=) rs1554898216
NM_000314.7(PTEN):c.472G>A (p.Val158Ile) rs1554898217
NM_000314.7(PTEN):c.492+14dup rs1064793690
NM_000314.7(PTEN):c.493-12dup rs756623620
NM_000314.7(PTEN):c.493-14T>C rs1564837710
NM_000314.7(PTEN):c.493-7C>T rs1554900492
NM_000314.7(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.7(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.7(PTEN):c.527A>G (p.Tyr176Cys) rs757498880
NM_000314.7(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.7(PTEN):c.56A>G (p.Asp19Gly) rs1554890392
NM_000314.7(PTEN):c.573G>A (p.Val191=) rs374478092
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.579G>C (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.7(PTEN):c.589A>C (p.Lys197Gln) rs1554900629
NM_000314.7(PTEN):c.595A>G (p.Met199Val) rs1434191423
NM_000314.7(PTEN):c.596T>A (p.Met199Lys) rs587781538
NM_000314.7(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.7(PTEN):c.624C>T (p.Gly208=) rs370162160
NM_000314.7(PTEN):c.625G>A (p.Gly209Arg) rs765433422
NM_000314.7(PTEN):c.634+14A>T rs762694325
NM_000314.7(PTEN):c.635-14A>G rs758742080
NM_000314.7(PTEN):c.635-19T>C rs1554825144
NM_000314.7(PTEN):c.635-7C>A rs1554825148
NM_000314.7(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
NM_000314.7(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.7(PTEN):c.670A>T (p.Ile224Leu) rs1554825177
NM_000314.7(PTEN):c.673T>C (p.Tyr225His) rs876659433
NM_000314.7(PTEN):c.683A>G (p.Asn228Ser) rs748240670
NM_000314.7(PTEN):c.693C>T (p.Pro231=) rs1064795327
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.700C>G (p.Arg234Gly) rs786201730
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.723T>C (p.Phe241=) rs17849090
NM_000314.7(PTEN):c.726G>A (p.Glu242=) rs1554825212
NM_000314.7(PTEN):c.741_742dup (p.Pro248fs) rs1554825222
NM_000314.7(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.7(PTEN):c.75G>A (p.Leu25=) rs786201506
NM_000314.7(PTEN):c.75G>T (p.Leu25Phe) rs786201506
NM_000314.7(PTEN):c.768G>A (p.Glu256=) rs1554825244
NM_000314.7(PTEN):c.771C>A (p.Phe257Leu) rs1554825245
NM_000314.7(PTEN):c.780A>G (p.Lys260=) rs876658720
NM_000314.7(PTEN):c.783G>A (p.Gln261=) rs760146269
NM_000314.7(PTEN):c.785A>C (p.Asn262Thr) rs763784377
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.79+11C>T rs1564801923
NM_000314.7(PTEN):c.79+16G>C rs768604051
NM_000314.7(PTEN):c.79+35C>T rs190707033
NM_000314.7(PTEN):c.79+4T>C rs1554890415
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.79+7A>T rs374331677
NM_000314.7(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.7(PTEN):c.795A>G (p.Leu265=) rs891648600
NM_000314.7(PTEN):c.80-11A>G rs776590293
NM_000314.7(PTEN):c.80-14A>T rs768354874
NM_000314.7(PTEN):c.80-18C>G rs1564814363
NM_000314.7(PTEN):c.80-19C>A rs1554893737
NM_000314.7(PTEN):c.80-8G>A rs1564814381
NM_000314.7(PTEN):c.801+14T>C rs1459692246
NM_000314.7(PTEN):c.801+15T>C rs1057520830
NM_000314.7(PTEN):c.801+18A>T rs777679092
NM_000314.7(PTEN):c.801+8C>G rs1057517630
NM_000314.7(PTEN):c.801+9T>C rs1060503839
NM_000314.7(PTEN):c.802-2dup rs1554825500
NM_000314.7(PTEN):c.804C>A (p.Asp268Glu) rs398123328
NM_000314.7(PTEN):c.816C>T (p.His272=) rs876659761
NM_000314.7(PTEN):c.823G>A (p.Val275Ile) rs1410198544
NM_000314.7(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_000314.7(PTEN):c.841C>G (p.Pro281Ala) rs750705904
NM_000314.7(PTEN):c.843A>G (p.Pro281=) rs1554825518
NM_000314.7(PTEN):c.847C>G (p.Pro283Ala) rs876658988
NM_000314.7(PTEN):c.847C>T (p.Pro283Ser) rs876658988
NM_000314.7(PTEN):c.855A>G (p.Glu285=) rs751888926
NM_000314.7(PTEN):c.861A>G (p.Ser287=) rs1564568288
NM_000314.7(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.7(PTEN):c.882T>C (p.Ser294=) rs143335584
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.896A>G (p.Glu299Gly) rs1554825550
NM_000314.7(PTEN):c.8C>T (p.Ala3Val) rs1564801650
NM_000314.7(PTEN):c.900C>T (p.Ile300=) rs550122918
NM_000314.7(PTEN):c.913A>G (p.Ser305Gly) rs775461980
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.7(PTEN):c.923G>A (p.Arg308His) rs786201507
NM_000314.7(PTEN):c.935A>G (p.Asp312Gly) rs863224667
NM_000314.7(PTEN):c.939G>A (p.Lys313=) rs562164491
NM_000314.7(PTEN):c.940G>T (p.Glu314Ter) rs1455551840
NM_000314.7(PTEN):c.949G>A (p.Val317Ile) rs876658630
NM_000314.7(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.7(PTEN):c.988A>G (p.Lys330Glu) rs1554825607
NM_000314.7(PTEN):c.9C>T (p.Ala3=) rs1554890328

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