ClinVar Miner

List of variants in gene PTEN reported by Mendelics

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.254-34T>G rs34047313 0.00200
NM_000314.8(PTEN):c.209+84G>A rs185262832 0.00199
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.-701G>A rs1554890059 0.00019
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.-280C>T rs571072832 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.492+31T>C rs1320105617 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn) rs758644748 0.00001
NC_000010.11:g.87965287del rs2132289111
NM_000314.8(PTEN):c.*3448_*3463dup rs763859619
NM_000314.8(PTEN):c.*3449_*3463dup rs763859619
NM_000314.8(PTEN):c.-482_-474del rs1226857287
NM_000314.8(PTEN):c.-513G>C rs546504608
NM_000314.8(PTEN):c.1016C>A (p.Pro339Gln) rs1564568679
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.1064C>T (p.Ser355Leu) rs2132289421
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.254-23C>T rs1396031556
NM_000314.8(PTEN):c.254-26A>T rs757177445
NM_000314.8(PTEN):c.254-29C>T rs753720712
NM_000314.8(PTEN):c.256G>A (p.Ala86Thr) rs1564829780
NM_000314.8(PTEN):c.2T>C (p.Met1Thr) rs1858394001
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser) rs1085308044
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.492+3A>G rs1564830529
NM_000314.8(PTEN):c.493-27G>T rs1589659262
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala) rs1210737543
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter) rs1589663442
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.810G>T (p.Met270Ile) rs1195369834
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer) rs1589665998

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