ClinVar Miner

List of variants in gene PTEN reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
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.-461G>A rs1209261790 0.00114
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00039
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-152A>G rs369849061 0.00018
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.-290A>T rs985226639 0.00010
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000314.8(PTEN):c.-105G>T rs1316552000 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.209+10T>C rs770451470 0.00002
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.210-48_210-44del rs765853588 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 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.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000314.8(PTEN):c.885A>G (p.Leu295=) rs587780713 0.00001
NM_000314.8(PTEN):c.-122C>T
NM_000314.8(PTEN):c.-175C>G
NM_000314.8(PTEN):c.-307C>A
NM_000314.8(PTEN):c.-312C>T
NM_000314.8(PTEN):c.-313A>G
NM_000314.8(PTEN):c.-319C>A
NM_000314.8(PTEN):c.-329C>T
NM_000314.8(PTEN):c.-349C>T
NM_000314.8(PTEN):c.-460G>C
NM_000314.8(PTEN):c.-466G>A
NM_000314.8(PTEN):c.-500GGC[3]
NM_000314.8(PTEN):c.-500GGC[4] rs1237307954
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-507del rs886047386
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.-512G>T
NM_000314.8(PTEN):c.-513G>C rs546504608
NM_000314.8(PTEN):c.-513G>T
NM_000314.8(PTEN):c.-540_-477del
NM_000314.8(PTEN):c.-546GGC[2]
NM_000314.8(PTEN):c.-66A>C
NM_000314.8(PTEN):c.-766G>A rs587782580
NM_000314.8(PTEN):c.1006del (p.Tyr336fs)
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter) rs1554897271
NM_000314.8(PTEN):c.209+9G>C
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.34A>C (p.Asn12His) rs1554890340
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
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.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.8(PTEN):c.653G>C (p.Cys218Ser) rs1860540059
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) rs786201995
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu) rs17849090
NM_000314.8(PTEN):c.734_735delinsCC (p.Gln245Pro)
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.826_829dup (p.Thr277fs)
NM_000314.8(PTEN):c.882_895del (p.Ser294fs)
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) rs746930141
NM_000314.8(PTEN):c.960A>G (p.Leu320=) rs886038279
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392

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