ClinVar Miner

List of variants studied for PTEN hamartoma tumor syndrome by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
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.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.*5T>C rs1006891299 0.00005
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.492G>A (p.Lys164=) rs146629065 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.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.802-13T>C rs540097879 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
NM_000314.8(PTEN):c.-15C>T rs1064793241 0.00001
NM_000314.8(PTEN):c.1003C>A (p.Arg335=) rs121909231 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.1115A>G (p.Asn372Ser) rs1370349057 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.1203A>G (p.Thr401=) rs876659102 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 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.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.350A>G (p.Asn117Ser) rs551221430 0.00001
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln) rs753630034 0.00001
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg) rs757087471 0.00001
NM_000314.8(PTEN):c.48T>C (p.Tyr16=) rs587782187 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.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.614T>C (p.Met205Thr) rs1185592373 0.00001
NM_000314.8(PTEN):c.624C>T (p.Gly208=) rs370162160 0.00001
NM_000314.8(PTEN):c.625G>A (p.Gly209Arg) rs765433422 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.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.80-14A>T rs768354874 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 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.905G>A (p.Ser302Asn) rs745638189 0.00001
NM_000314.8(PTEN):c.923G>A (p.Arg308His) rs786201507 0.00001
NM_000314.8(PTEN):c.948A>G (p.Leu316=) rs775997892 0.00001
NM_000314.8(PTEN):c.*1_*2del
NM_000314.8(PTEN):c.*3T>C
NM_000314.8(PTEN):c.-14A>C rs755295390
NM_000314.8(PTEN):c.-7C>T rs1064795131
NM_000314.8(PTEN):c.1002C>G (p.Asn334Lys) rs1554825620
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1015C>G (p.Pro339Ala)
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.1026+11_1026+15del rs1564568719
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1035G>A (p.Leu345=) rs1564570289
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.1048dup (p.Thr350fs) rs797045066
NM_000314.8(PTEN):c.1053A>G (p.Val351=)
NM_000314.8(PTEN):c.1059G>A (p.Glu353=)
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.1074G>A (p.Glu358=) rs876659464
NM_000314.8(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1096A>G (p.Thr366Ala) rs1564570409
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1134A>G (p.Arg378=) rs1554826056
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.1162G>C (p.Glu388Gln)
NM_000314.8(PTEN):c.1172C>T (p.Pro391Leu) rs1554826059
NM_000314.8(PTEN):c.1188G>A (p.Gln396=) rs786202062
NM_000314.8(PTEN):c.1193C>T (p.Thr398Ile) rs1860739729
NM_000314.8(PTEN):c.11T>C (p.Ile4Thr) rs1858394571
NM_000314.8(PTEN):c.132C>A (p.Gly44=) rs150651961
NM_000314.8(PTEN):c.144C>T (p.Asn48=) rs762518389
NM_000314.8(PTEN):c.146A>G (p.Asn49Ser) rs992385562
NM_000314.8(PTEN):c.153T>C (p.Asp51=)
NM_000314.8(PTEN):c.177A>G (p.Ser59=) rs878853935
NM_000314.8(PTEN):c.17A>C (p.Lys6Thr)
NM_000314.8(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)
NM_000314.8(PTEN):c.196A>C (p.Lys66Gln)
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.8(PTEN):c.210-12C>G
NM_000314.8(PTEN):c.212G>T (p.Cys71Phe) rs1554897856
NM_000314.8(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.8(PTEN):c.230A>G (p.Asp77Gly)
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.8(PTEN):c.254-13C>G
NM_000314.8(PTEN):c.254-3_254-2del rs1064794169
NM_000314.8(PTEN):c.254-8dup rs767806773
NM_000314.8(PTEN):c.286C>A (p.Pro96Thr)
NM_000314.8(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.8(PTEN):c.348C>A (p.Asp116Glu) rs1114167651
NM_000314.8(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.8(PTEN):c.413A>G (p.Tyr138Cys) rs1554898159
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.447A>G (p.Gln149=) rs750401982
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.491A>T (p.Lys164Met)
NM_000314.8(PTEN):c.493-3C>G rs1589659297
NM_000314.8(PTEN):c.493-7C>T rs1554900492
NM_000314.8(PTEN):c.505C>G (p.Pro169Ala) rs1564837747
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.8(PTEN):c.537C>T (p.Ser179=)
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.8(PTEN):c.55G>A (p.Asp19Asn) rs121909233
NM_000314.8(PTEN):c.571G>T (p.Val191Leu) rs1060500130
NM_000314.8(PTEN):c.575C>G (p.Ala192Gly)
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.595A>G (p.Met199Val) rs1434191423
NM_000314.8(PTEN):c.59G>A (p.Gly20Glu) rs1064795967
NM_000314.8(PTEN):c.607A>G (p.Ile203Val) rs1564837997
NM_000314.8(PTEN):c.618C>T (p.Phe206=) rs786202773
NM_000314.8(PTEN):c.622G>A (p.Gly208Ser) rs1860425648
NM_000314.8(PTEN):c.631T>C (p.Cys211Arg) rs1860426392
NM_000314.8(PTEN):c.649G>C (p.Val217Leu)
NM_000314.8(PTEN):c.653G>T (p.Cys218Phe)
NM_000314.8(PTEN):c.665T>C (p.Val222Ala) rs2132276621
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.672A>T (p.Ile224=)
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.687_688insACGAAT (p.Ser229_Gly230insThrAsn)
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.8(PTEN):c.700C>G (p.Arg234Gly) rs786201730
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.701G>T (p.Arg234Leu)
NM_000314.8(PTEN):c.713T>C (p.Phe238Ser)
NM_000314.8(PTEN):c.719A>G (p.Tyr240Cys)
NM_000314.8(PTEN):c.731C>T (p.Pro244Leu)
NM_000314.8(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.768G>C (p.Glu256Asp)
NM_000314.8(PTEN):c.780A>G (p.Lys260=) rs876658720
NM_000314.8(PTEN):c.80-6A>T
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.816C>T (p.His272=) rs876659761
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.8(PTEN):c.911G>T (p.Cys304Phe)
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.919G>C (p.Glu307Gln) rs746930141
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.923G>T (p.Arg308Leu)
NM_000314.8(PTEN):c.953T>G (p.Leu318Arg)
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.8(PTEN):c.96T>C (p.Ile32=)
NM_000314.8(PTEN):c.96T>G (p.Ile32Met)
NM_000314.8(PTEN):c.978C>G (p.Asp326Glu) rs1860631336
NM_000314.8(PTEN):c.998C>A (p.Ala333Asp) rs1554825616

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