ClinVar Miner

List of variants in gene PTEN reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.*1516T>C rs701848 0.32619
NM_000314.8(PTEN):c.*2185C>T rs11202607 0.06759
NM_000314.8(PTEN):c.*1460A>T rs35632884 0.02660
NM_000314.8(PTEN):c.*2415C>G rs34761252 0.01809
NM_000314.8(PTEN):c.*1430G>T rs35460383 0.01384
NM_000314.8(PTEN):c.*1565C>A rs34140758 0.01132
NM_000314.8(PTEN):c.*1955T>A rs41284072 0.01082
NM_000314.8(PTEN):c.*1745G>A rs116248217 0.00644
NM_000314.8(PTEN):c.*1499C>T rs180953647 0.00272
NM_000314.8(PTEN):c.*1954A>T rs35914322 0.00268
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.*2162A>G rs574993688 0.00216
NM_000314.8(PTEN):c.*2173C>T rs186996550 0.00211
NM_000314.8(PTEN):c.*1945G>A rs567800059 0.00201
NM_000314.8(PTEN):c.*1702G>A rs150265244 0.00200
NM_000314.8(PTEN):c.*353C>T rs181234898 0.00200
NM_000314.8(PTEN):c.*788T>C rs138309082 0.00200
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.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.*1620T>C rs568474293 0.00127
NM_000314.8(PTEN):c.*1583G>A rs548599209 0.00112
NM_000314.8(PTEN):c.*1459T>A rs886047425 0.00086
NM_000314.8(PTEN):c.*1028T>C rs775039992 0.00077
NM_000314.8(PTEN):c.*2786C>T rs574096019 0.00051
NM_000314.8(PTEN):c.*421T>C rs141648241 0.00051
NM_000314.8(PTEN):c.*75T>A rs74535369 0.00049
NM_000314.8(PTEN):c.*1152C>T rs552354954 0.00035
NM_000314.8(PTEN):c.*282G>A rs576872432 0.00033
NM_000314.8(PTEN):c.*1119A>T rs376153776 0.00029
NM_000314.8(PTEN):c.*2821A>T rs11591427 0.00022
NM_000314.8(PTEN):c.-152A>G rs369849061 0.00018
NM_000314.8(PTEN):c.*1695C>A rs141857855 0.00016
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.*1202T>C rs886047416 0.00013
NM_000314.8(PTEN):c.*178T>G rs886047401 0.00013
NM_000314.8(PTEN):c.*1449T>G rs886047424 0.00012
NM_000314.8(PTEN):c.*1440T>G rs886047422 0.00010
NM_000314.8(PTEN):c.*1762G>A rs886047432 0.00010
NM_000314.8(PTEN):c.*430A>G rs886047402 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.*2203A>G rs886047437 0.00009
NM_000314.8(PTEN):c.*601A>G rs371547288 0.00008
NM_000314.8(PTEN):c.-111G>T rs761148721 0.00006
NM_000314.8(PTEN):c.*1442T>G rs886047423 0.00004
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_000314.8(PTEN):c.*1501A>T rs1324528719 0.00003
NM_000314.8(PTEN):c.*1591A>G rs886047430 0.00003
NM_000314.8(PTEN):c.*1833T>A rs772654487 0.00003
NM_000314.8(PTEN):c.*2437A>G rs886047440 0.00003
NM_000314.8(PTEN):c.*3177A>G rs886047450 0.00003
NM_000314.8(PTEN):c.-246C>T rs886047393 0.00003
NM_000314.8(PTEN):c.-295T>C rs886047392 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.*2771T>C rs886047445 0.00002
NM_000314.8(PTEN):c.*3061A>G rs1184408482 0.00002
NM_000314.8(PTEN):c.*1173G>A rs886047415 0.00001
NM_000314.8(PTEN):c.*1237A>G rs547879223 0.00001
NM_000314.8(PTEN):c.*124C>T rs886047399 0.00001
NM_000314.8(PTEN):c.*1572C>T rs886047428 0.00001
NM_000314.8(PTEN):c.*2072C>G rs1860800600 0.00001
NM_000314.8(PTEN):c.*2551G>A rs537283839 0.00001
NM_000314.8(PTEN):c.*27C>A rs748897412 0.00001
NM_000314.8(PTEN):c.*2905G>C rs886047447 0.00001
NM_000314.8(PTEN):c.-159A>G rs1858384585 0.00001
NM_000314.8(PTEN):c.-76C>T rs890819592 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.673T>C (p.Tyr225His) rs876659433 0.00001
NM_000314.8(PTEN):c.*1034T>G rs886047412
NM_000314.8(PTEN):c.*1131del rs547262170
NM_000314.8(PTEN):c.*1150C>A rs886047414
NM_000314.8(PTEN):c.*1282T>C rs992610805
NM_000314.8(PTEN):c.*1363dup rs886047417
NM_000314.8(PTEN):c.*1436_*1437insGTT rs563751927
NM_000314.8(PTEN):c.*1457_*1459del rs5786797
NM_000314.8(PTEN):c.*1458_*1459del rs5786797
NM_000314.8(PTEN):c.*1459del rs5786797
NM_000314.8(PTEN):c.*1459dup rs5786797
NM_000314.8(PTEN):c.*1462del rs886047418
NM_000314.8(PTEN):c.*1529C>T rs886047427
NM_000314.8(PTEN):c.*1576T>A rs886047429
NM_000314.8(PTEN):c.*1669C>A rs886047431
NM_000314.8(PTEN):c.*1740T>A rs959346621
NM_000314.8(PTEN):c.*176del rs886047400
NM_000314.8(PTEN):c.*2006A>G rs1368028983
NM_000314.8(PTEN):c.*2027A>C rs886047433
NM_000314.8(PTEN):c.*2061T>A rs886047434
NM_000314.8(PTEN):c.*2110G>T rs886047435
NM_000314.8(PTEN):c.*2200C>A rs886047436
NM_000314.8(PTEN):c.*2204T>A rs552431817
NM_000314.8(PTEN):c.*2263ATT[1] rs775116816
NM_000314.8(PTEN):c.*2281T>C rs1860806991
NM_000314.8(PTEN):c.*2408_*2414del rs886047439
NM_000314.8(PTEN):c.*2558C>A rs886047441
NM_000314.8(PTEN):c.*2649A>C rs1860815307
NM_000314.8(PTEN):c.*2683_*2684insACA rs886047442
NM_000314.8(PTEN):c.*2685CTC[1] rs886047443
NM_000314.8(PTEN):c.*2746C>A rs886047444
NM_000314.8(PTEN):c.*2789C>G rs886047446
NM_000314.8(PTEN):c.*3033C>A rs886047448
NM_000314.8(PTEN):c.*3083C>A rs886047449
NM_000314.8(PTEN):c.*515T>C rs886047403
NM_000314.8(PTEN):c.*597C>A rs886047404
NM_000314.8(PTEN):c.*621G>T rs886047405
NM_000314.8(PTEN):c.*631C>A rs886047406
NM_000314.8(PTEN):c.*640C>A rs886047407
NM_000314.8(PTEN):c.*666dup rs543873570
NM_000314.8(PTEN):c.*667A>T rs886047409
NM_000314.8(PTEN):c.*74T>C rs886047398
NM_000314.8(PTEN):c.*790A>G rs886047411
NM_000314.8(PTEN):c.*791_*793del rs886047410
NM_000314.8(PTEN):c.*970C>A rs773513402
NM_000314.8(PTEN):c.-190G>A rs886047394
NM_000314.8(PTEN):c.-266C>G rs1337121620
NM_000314.8(PTEN):c.-284C>T rs552470098
NM_000314.8(PTEN):c.-286C>T rs1858377103
NM_000314.8(PTEN):c.-32CCT[1] rs749497048
NM_000314.8(PTEN):c.-355G>A rs886047391
NM_000314.8(PTEN):c.-426G>T rs886047390
NM_000314.8(PTEN):c.-459G>T rs886047389
NM_000314.8(PTEN):c.-462G>A rs886047388
NM_000314.8(PTEN):c.-507del rs886047386
NM_000314.8(PTEN):c.-512G>A rs886047387
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-737C>G rs886047383
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.422A>G (p.His141Arg) rs863224666
NM_000314.8(PTEN):c.457G>C (p.Asp153His) rs9651492
NM_000314.8(PTEN):c.802-2del rs886047397

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