ClinVar Miner

List of variants in gene PTEN studied for Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-511G>A rs12573787 0.15371
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975 0.00003
NM_000314.8(PTEN):c.-156C>G rs535471450 0.00001
NM_000314.8(PTEN):c.1008C>T (p.Tyr336=) rs786201816 0.00001
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) rs786204928 0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.923G>A (p.Arg308His) rs786201507 0.00001
NC_000010.10:g.89711875_89725229del
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.-32CCT[1] rs749497048
NM_000314.8(PTEN):c.1026+11_1026+15del rs1564568719
NM_000314.8(PTEN):c.1041C>T (p.Phe347=) rs1554826029
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.210-12C>G rs766570103
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.220A>G (p.Arg74Gly) rs1554897861
NM_000314.8(PTEN):c.225_238del (p.His75fs)
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.557T>C (p.Leu186Pro)
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.764T>G (p.Val255Gly)
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-13del rs1273383569
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer) rs1860617439
NM_000314.8(PTEN):c.852G>A (p.Glu284=) rs1860620187
NM_000314.8(PTEN):c.861A>G (p.Ser287=) rs1564568288
NM_000314.8(PTEN):c.886T>C (p.Cys296Arg) rs786202207
NM_000314.8(PTEN):c.953T>G (p.Leu318Arg) rs2132283096

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