ClinVar Miner

List of variants in gene PTEN reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
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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.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
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.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.612A>G (p.Pro204=) rs539074063 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.1086A>G (p.Ser362=) rs761948873 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.900C>T (p.Ile300=) rs550122918 0.00002
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.1203A>G (p.Thr401=) rs876659102 0.00001
NM_000314.8(PTEN):c.1209C>G (p.Val403=) rs1860740348 0.00001
NM_000314.8(PTEN):c.204C>T (p.Tyr68=) rs773176120 0.00001
NM_000314.8(PTEN):c.253+4G>A rs1060500112 0.00001
NM_000314.8(PTEN):c.258A>G (p.Ala86=) rs587780710 0.00001
NM_000314.8(PTEN):c.288A>G (p.Pro96=) rs746661067 0.00001
NM_000314.8(PTEN):c.294A>G (p.Leu98=) rs770224289 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.480C>T (p.Thr160=) rs746574957 0.00001
NM_000314.8(PTEN):c.48T>C (p.Tyr16=) rs587782187 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.624C>T (p.Gly208=) rs370162160 0.00001
NM_000314.8(PTEN):c.693C>T (p.Pro231=) rs1064795327 0.00001
NM_000314.8(PTEN):c.711G>A (p.Lys237=) rs773353820 0.00001
NM_000314.8(PTEN):c.723T>C (p.Phe241=) rs17849090 0.00001
NM_000314.8(PTEN):c.72C>T (p.Asp24=) rs1320222638 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.750T>C (p.Cys250=) rs767623493 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.783G>A (p.Gln261=) rs760146269 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 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.948A>G (p.Leu316=) rs775997892 0.00001
NM_000314.8(PTEN):c.981A>G (p.Lys327=) rs772872626 0.00001
NM_000314.8(PTEN):c.1005A>G (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1005A>T (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.8(PTEN):c.1017A>C (p.Pro339=)
NM_000314.8(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.8(PTEN):c.1029G>A (p.Val343=) rs1393550059
NM_000314.8(PTEN):c.1035G>A (p.Leu345=) rs1564570289
NM_000314.8(PTEN):c.1041C>T (p.Phe347=) rs1554826029
NM_000314.8(PTEN):c.1074G>A (p.Glu358=) rs876659464
NM_000314.8(PTEN):c.1089T>C (p.Thr363=) rs864622690
NM_000314.8(PTEN):c.1092T>C (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1095A>G (p.Val365=) rs1589669290
NM_000314.8(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.8(PTEN):c.1098A>G (p.Thr366=)
NM_000314.8(PTEN):c.1101A>C (p.Pro367=)
NM_000314.8(PTEN):c.1101A>G (p.Pro367=) rs2132289693
NM_000314.8(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.8(PTEN):c.1116T>C (p.Asn372=) rs1060503845
NM_000314.8(PTEN):c.1119A>G (p.Glu373=)
NM_000314.8(PTEN):c.1125T>C (p.Asp375=) rs1057524567
NM_000314.8(PTEN):c.1131T>C (p.Tyr377=) rs1345063638
NM_000314.8(PTEN):c.1134A>G (p.Arg378=) rs1554826056
NM_000314.8(PTEN):c.1137T>C (p.Tyr379=) rs1295420243
NM_000314.8(PTEN):c.1152C>T (p.Asp384=) rs2132290073
NM_000314.8(PTEN):c.1155T>C (p.Ser385=) rs1860738182
NM_000314.8(PTEN):c.1161A>C (p.Pro387=)
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.1173T>G (p.Pro391=) rs1554826062
NM_000314.8(PTEN):c.117A>G (p.Ala39=)
NM_000314.8(PTEN):c.1188G>A (p.Gln396=) rs786202062
NM_000314.8(PTEN):c.1200T>A (p.Ile400=)
NM_000314.8(PTEN):c.120A>G (p.Glu40=)
NM_000314.8(PTEN):c.132C>A (p.Gly44=) rs150651961
NM_000314.8(PTEN):c.135A>G (p.Val45=) rs959491852
NM_000314.8(PTEN):c.144C>T (p.Asn48=) rs762518389
NM_000314.8(PTEN):c.156T>C (p.Asp52=) rs1589617385
NM_000314.8(PTEN):c.159A>T (p.Val53=)
NM_000314.8(PTEN):c.162A>G (p.Val54=)
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.8(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.8(PTEN):c.183T>C (p.His61=) rs876659980
NM_000314.8(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.8(PTEN):c.195C>T (p.Tyr65=) rs878853936
NM_000314.8(PTEN):c.207T>C (p.Asn69=)
NM_000314.8(PTEN):c.209+3A>G rs786202612
NM_000314.8(PTEN):c.210-3dup rs1064794464
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
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.228T>C (p.Tyr76=) rs1554897866
NM_000314.8(PTEN):c.231C>T (p.Asp77=) rs755953294
NM_000314.8(PTEN):c.234C>A (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.240A>G (p.Lys80=)
NM_000314.8(PTEN):c.24C>A (p.Ile8=)
NM_000314.8(PTEN):c.24C>T (p.Ile8=) rs1589596177
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.255T>C (p.Val85=) rs1589645952
NM_000314.8(PTEN):c.264T>C (p.Tyr88=) rs1554898056
NM_000314.8(PTEN):c.291G>A (p.Gln97=) rs1564829889
NM_000314.8(PTEN):c.309C>G (p.Pro103=) rs2132242458
NM_000314.8(PTEN):c.309C>T (p.Pro103=)
NM_000314.8(PTEN):c.327C>T (p.Asp109=)
NM_000314.8(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.8(PTEN):c.342A>G (p.Glu114=) rs1589646244
NM_000314.8(PTEN):c.348C>T (p.Asp116=) rs1114167651
NM_000314.8(PTEN):c.357T>G (p.Val119=) rs1554898115
NM_000314.8(PTEN):c.360A>G (p.Ala120=) rs759485888
NM_000314.8(PTEN):c.366T>C (p.Ile122=) rs1564830125
NM_000314.8(PTEN):c.369C>T (p.His123=) rs1085308045
NM_000314.8(PTEN):c.384G>A (p.Lys128=) rs1114167645
NM_000314.8(PTEN):c.388C>A (p.Arg130=)
NM_000314.8(PTEN):c.396T>C (p.Gly132=) rs1564830257
NM_000314.8(PTEN):c.405A>T (p.Ile135=)
NM_000314.8(PTEN):c.408T>C (p.Cys136=) rs869312776
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.420A>G (p.Leu140=) rs2132243531
NM_000314.8(PTEN):c.426G>C (p.Arg142=) rs878853939
NM_000314.8(PTEN):c.429C>T (p.Gly143=) rs1589646539
NM_000314.8(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.8(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.447A>G (p.Gln149=) rs750401982
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000314.8(PTEN):c.454C>T (p.Leu152=) rs1064795450
NM_000314.8(PTEN):c.45A>G (p.Arg15=) rs1064794096
NM_000314.8(PTEN):c.480C>A (p.Thr160=)
NM_000314.8(PTEN):c.498A>G (p.Val166=)
NM_000314.8(PTEN):c.504T>A (p.Ile168=) rs1589659338
NM_000314.8(PTEN):c.516G>A (p.Arg172=)
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.537C>T (p.Ser179=)
NM_000314.8(PTEN):c.541C>T (p.Leu181=) rs1589659489
NM_000314.8(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.8(PTEN):c.552T>C (p.Asn184=)
NM_000314.8(PTEN):c.573G>A (p.Val191=) rs374478092
NM_000314.8(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.8(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.8(PTEN):c.606T>A (p.Thr202=)
NM_000314.8(PTEN):c.60A>T (p.Gly20=)
NM_000314.8(PTEN):c.618C>T (p.Phe206=) rs786202773
NM_000314.8(PTEN):c.621T>C (p.Ser207=)
NM_000314.8(PTEN):c.633C>T (p.Cys211=) rs121909232
NM_000314.8(PTEN):c.635-4G>A
NM_000314.8(PTEN):c.642G>A (p.Gln214=) rs1589663143
NM_000314.8(PTEN):c.648G>T (p.Val216=)
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.678C>G (p.Ser226=) rs1589663262
NM_000314.8(PTEN):c.687A>G (p.Ser229=) rs1554825185
NM_000314.8(PTEN):c.697C>A (p.Arg233=) rs121909219
NM_000314.8(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.8(PTEN):c.705A>G (p.Glu235=)
NM_000314.8(PTEN):c.708C>T (p.Asp236=) rs1183182915
NM_000314.8(PTEN):c.726G>A (p.Glu242=) rs1554825212
NM_000314.8(PTEN):c.729C>T (p.Phe243=)
NM_000314.8(PTEN):c.741A>G (p.Leu247=) rs1554825217
NM_000314.8(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.765A>G (p.Val255=) rs1589663555
NM_000314.8(PTEN):c.768G>A (p.Glu256=) rs1554825244
NM_000314.8(PTEN):c.774C>T (p.Phe258=) rs1554825246
NM_000314.8(PTEN):c.780A>G (p.Lys260=) rs876658720
NM_000314.8(PTEN):c.79+20C>G rs587781291
NM_000314.8(PTEN):c.79+3A>G rs771928902
NM_000314.8(PTEN):c.79+4_79+5inv
NM_000314.8(PTEN):c.80-5C>T rs1060503842
NM_000314.8(PTEN):c.802-3T>A rs587780712
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.802-5_802-3del rs34003473
NM_000314.8(PTEN):c.804C>T (p.Asp268=)
NM_000314.8(PTEN):c.816C>T (p.His272=) rs876659761
NM_000314.8(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.8(PTEN):c.831A>G (p.Thr277=) rs376886779
NM_000314.8(PTEN):c.834C>T (p.Phe278=) rs867171992
NM_000314.8(PTEN):c.861A>G (p.Ser287=) rs1564568288
NM_000314.8(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.8(PTEN):c.882T>C (p.Ser294=) rs143335584
NM_000314.8(PTEN):c.903T>C (p.Asp301=) rs2132282573
NM_000314.8(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.8(PTEN):c.924T>G (p.Arg308=)
NM_000314.8(PTEN):c.927A>G (p.Ala309=)
NM_000314.8(PTEN):c.939G>A (p.Lys313=) rs562164491
NM_000314.8(PTEN):c.942A>G (p.Glu314=) rs1589666037
NM_000314.8(PTEN):c.951A>C (p.Val317=) rs876659993
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.8(PTEN):c.975T>C (p.Leu325=)
NM_000314.8(PTEN):c.984A>C (p.Ala328=)
NM_000314.8(PTEN):c.999C>T (p.Ala333=) rs2132283524
NM_000314.8(PTEN):c.99T>C (p.Ile33=) rs786201650
NM_000314.8(PTEN):c.9C>A (p.Ala3=)

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