ClinVar Miner

List of variants in gene PTEN reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
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.-734G>A rs786205432 0.00013
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-714G>A rs587779989 0.00005
NM_000314.8(PTEN):c.-731C>T rs886039462 0.00004
NM_000314.8(PTEN):c.-28C>T rs764917503 0.00003
NM_000314.8(PTEN):c.-742G>A rs876661008 0.00003
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.492G>A (p.Lys164=) rs146629065 0.00003
NM_000314.8(PTEN):c.-26T>C rs750098228 0.00002
NM_000314.8(PTEN):c.-704G>C rs1251019969 0.00002
NM_000314.8(PTEN):c.-728C>T rs786204870 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln) rs753630034 0.00002
NM_000314.8(PTEN):c.-15C>T rs1064793241 0.00001
NM_000314.8(PTEN):c.-25T>C rs786204909 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.-768G>T rs587779991 0.00001
NM_000314.8(PTEN):c.-770G>A rs1255704947 0.00001
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264 0.00001
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.1105G>A (p.Val369Ile) rs587782224 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.1206A>C (p.Lys402Asn) rs1064796017 0.00001
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) rs786204922 0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.612A>G (p.Pro204=) rs539074063 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.673T>C (p.Tyr225His) rs876659433 0.00001
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998 0.00001
NM_000314.8(PTEN):c.693C>T (p.Pro231=) rs1064795327 0.00001
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.774C>T (p.Phe258=) rs1554825246 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000314.8(PTEN):c.859T>C (p.Ser287Pro) rs1554825526 0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121 0.00001
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007 0.00001
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436 0.00001
NM_000314.4:c.-(1087_1062)delGCTCGCACCCAGAGCTACCGCTCTGC
NM_000314.4:c.-(903_882)dupGGGACTCTTTATGCGCTGCGGC
NM_000314.8(PTEN):c.*4T>A
NM_000314.8(PTEN):c.*6T>C rs1064794975
NM_000314.8(PTEN):c.-14A>G rs755295390
NM_000314.8(PTEN):c.-153T>C
NM_000314.8(PTEN):c.-16C>T rs1064793804
NM_000314.8(PTEN):c.-17G>T rs1064793744
NM_000314.8(PTEN):c.-17_-14del rs1064794174
NM_000314.8(PTEN):c.-1C>T rs770965327
NM_000314.8(PTEN):c.-32C>T rs376610243
NM_000314.8(PTEN):c.-32CCT[1] rs749497048
NM_000314.8(PTEN):c.-33T>C rs1858391081
NM_000314.8(PTEN):c.-39TC[2] rs1064795965
NM_000314.8(PTEN):c.-39TC[3]
NM_000314.8(PTEN):c.-448C>T rs2132142738
NM_000314.8(PTEN):c.-696C>G rs1554890065
NM_000314.8(PTEN):c.-720G>A rs960387107
NM_000314.8(PTEN):c.-721C>T rs1554890055
NM_000314.8(PTEN):c.-729C>T rs1554890049
NM_000314.8(PTEN):c.-730C>G rs786204869
NM_000314.8(PTEN):c.-734dup rs786204891
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-735G>C rs886047384
NM_000314.8(PTEN):c.-744C>T rs1554890027
NM_000314.8(PTEN):c.-749G>A rs994757335
NM_000314.8(PTEN):c.-753C>T rs1554890025
NM_000314.8(PTEN):c.-754A>G rs1554890021
NM_000314.8(PTEN):c.-764G>A rs876661267
NM_000314.8(PTEN):c.-777G>C rs1064795132
NM_000314.8(PTEN):c.-7C>T rs1064795131
NM_000314.8(PTEN):c.1006T>C (p.Tyr336His) rs1860633558
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.1025A>C (p.Lys342Thr) rs1064794080
NM_000314.8(PTEN):c.1042A>C (p.Thr348Pro) rs2132289257
NM_000314.8(PTEN):c.1052_1054del (p.Val351del) rs587780003
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.1074G>C (p.Glu358Asp) rs876659464
NM_000314.8(PTEN):c.1075G>T (p.Ala359Ser) rs864622594
NM_000314.8(PTEN):c.1076C>T (p.Ala359Val) rs2132289511
NM_000314.8(PTEN):c.1088C>T (p.Thr363Ile) rs750585255
NM_000314.8(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.8(PTEN):c.1126C>T (p.His376Tyr) rs2132289872
NM_000314.8(PTEN):c.1133G>C (p.Arg378Thr) rs2132289942
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter) rs2132290171
NM_000314.8(PTEN):c.1169A>G (p.Glu390Gly) rs2132290180
NM_000314.8(PTEN):c.1190A>G (p.His397Arg) rs876661021
NM_000314.8(PTEN):c.1197A>T (p.Gln399His) rs374684043
NM_000314.8(PTEN):c.1198A>G (p.Ile400Val) rs863224665
NM_000314.8(PTEN):c.126_128dup (p.Leu42_Glu43insAsp) rs786204896
NM_000314.8(PTEN):c.130G>A (p.Gly44Ser) rs1554893812
NM_000314.8(PTEN):c.136T>G (p.Tyr46Asp) rs1064793325
NM_000314.8(PTEN):c.156T>G (p.Asp52Glu) rs1589617385
NM_000314.8(PTEN):c.160G>A (p.Val54Ile) rs786204916
NM_000314.8(PTEN):c.164+4A>G rs1554893837
NM_000314.8(PTEN):c.165G>A (p.Arg55=) rs1859801849
NM_000314.8(PTEN):c.167T>G (p.Phe56Cys) rs748031178
NM_000314.8(PTEN):c.169T>G (p.Leu57Val) rs2132232119
NM_000314.8(PTEN):c.173A>G (p.Asp58Gly) rs1131691885
NM_000314.8(PTEN):c.188A>C (p.Asn63Thr) rs2132232249
NM_000314.8(PTEN):c.227A>G (p.Tyr76Cys) rs2132238825
NM_000314.8(PTEN):c.227A>T (p.Tyr76Phe) rs2132238825
NM_000314.8(PTEN):c.22A>G (p.Ile8Val)
NM_000314.8(PTEN):c.244A>G (p.Asn82Asp) rs1064793242
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.253G>A (p.Val85Ile) rs2132239030
NM_000314.8(PTEN):c.254-3_254-2del rs1064794169
NM_000314.8(PTEN):c.254-6C>G rs1057520525
NM_000314.8(PTEN):c.254T>G (p.Val85Gly) rs1114167658
NM_000314.8(PTEN):c.328C>A (p.Gln110Lys) rs1114167629
NM_000314.8(PTEN):c.328C>G (p.Gln110Glu) rs1114167629
NM_000314.8(PTEN):c.32G>C (p.Arg11Thr)
NM_000314.8(PTEN):c.343G>T (p.Asp115Tyr) rs145124907
NM_000314.8(PTEN):c.352C>T (p.His118Tyr) rs1564830084
NM_000314.8(PTEN):c.353A>G (p.His118Arg) rs1554898107
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser) rs1085308044
NM_000314.8(PTEN):c.384G>A (p.Lys128=) rs1114167645
NM_000314.8(PTEN):c.405A>G (p.Ile135Met) rs2132243411
NM_000314.8(PTEN):c.424C>A (p.Arg142=) rs746152219
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.8(PTEN):c.454C>T (p.Leu152=) rs1064795450
NM_000314.8(PTEN):c.460T>G (p.Phe154Val)
NM_000314.8(PTEN):c.490A>G (p.Lys164Glu) rs1554898237
NM_000314.8(PTEN):c.492G>C (p.Lys164Asn) rs146629065
NM_000314.8(PTEN):c.502A>T (p.Ile168Phe) rs1860415565
NM_000314.8(PTEN):c.560A>G (p.Asp187Gly) rs786204943
NM_000314.8(PTEN):c.56A>G (p.Asp19Gly) rs1554890392
NM_000314.8(PTEN):c.571G>C (p.Val191Leu) rs1060500130
NM_000314.8(PTEN):c.580T>A (p.Leu194Met) rs2132269617
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.596T>A (p.Met199Lys) rs587781538
NM_000314.8(PTEN):c.596T>C (p.Met199Thr) rs587781538
NM_000314.8(PTEN):c.59G>A (p.Gly20Glu) rs1064795967
NM_000314.8(PTEN):c.59G>T (p.Gly20Val) rs1064795967
NM_000314.8(PTEN):c.604A>T (p.Thr202Ser) rs786204944
NM_000314.8(PTEN):c.607A>C (p.Ile203Leu) rs1564837997
NM_000314.8(PTEN):c.609T>G (p.Ile203Met)
NM_000314.8(PTEN):c.622G>A (p.Gly208Ser) rs1860425648
NM_000314.8(PTEN):c.634+4A>G rs1554900675
NM_000314.8(PTEN):c.634A>C (p.Asn212His) rs1860426730
NM_000314.8(PTEN):c.634A>G (p.Asn212Asp) rs1860426730
NM_000314.8(PTEN):c.635-9A>G rs1057520628
NM_000314.8(PTEN):c.653G>T (p.Cys218Phe) rs1860540059
NM_000314.8(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
NM_000314.8(PTEN):c.664G>A (p.Val222Met) rs878853943
NM_000314.8(PTEN):c.683A>G (p.Asn228Ser) rs748240670
NM_000314.8(PTEN):c.695C>T (p.Thr232Ile) rs2132276908
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.715A>G (p.Met239Val) rs786201758
NM_000314.8(PTEN):c.716T>C (p.Met239Thr) rs786204871
NM_000314.8(PTEN):c.721T>G (p.Phe241Val) rs1554825207
NM_000314.8(PTEN):c.725A>T (p.Glu242Val) rs1860545768
NM_000314.8(PTEN):c.730C>T (p.Pro244Ser) rs1064794675
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_000314.8(PTEN):c.742C>T (p.Pro248Ser) rs1564566931
NM_000314.8(PTEN):c.74T>C (p.Leu25Ser) rs786204912
NM_000314.8(PTEN):c.754G>A (p.Asp252Asn) rs1589663499
NM_000314.8(PTEN):c.761A>T (p.Lys254Ile) rs1114167633
NM_000314.8(PTEN):c.79+2T>C
NM_000314.8(PTEN):c.79+4T>G rs1554890415
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000314.8(PTEN):c.808A>G (p.Met270Val) rs1554825502
NM_000314.8(PTEN):c.810G>C (p.Met270Ile) rs1195369834
NM_000314.8(PTEN):c.817T>A (p.Phe273Ile)
NM_000314.8(PTEN):c.832T>C (p.Phe278Leu)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr) rs1355570425
NM_000314.8(PTEN):c.840A>G (p.Ile280Met)
NM_000314.8(PTEN):c.869T>C (p.Val290Ala) rs876661234
NM_000314.8(PTEN):c.889G>T (p.Asp297Tyr) rs370064195
NM_000314.8(PTEN):c.896A>G (p.Glu299Gly) rs1554825550
NM_000314.8(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.8(PTEN):c.919G>C (p.Glu307Gln) rs746930141
NM_000314.8(PTEN):c.928G>A (p.Asp310Asn) rs2132282787
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala) rs1171478249
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.8(PTEN):c.956C>T (p.Thr319Ile) rs761350690
NM_000314.8(PTEN):c.95T>C (p.Ile32Thr) rs1057518329
NM_000314.8(PTEN):c.964A>G (p.Lys322Glu) rs786202004
NM_000314.8(PTEN):c.972T>A (p.Asp324Glu) rs1860630615
NM_000314.8(PTEN):c.984_998del (p.Lys330_Asn334del) rs1057518539
NM_000314.8(PTEN):c.984_998dup (p.Lys330_Asn334dup) rs1057518539

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