ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-156C>G rs535471450 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.220A>G (p.Arg74Gly) rs1554897861
NM_000314.8(PTEN):c.557T>C (p.Leu186Pro)
NM_000314.8(PTEN):c.802-51_802-13del rs1273383569
NM_000314.8(PTEN):c.886T>C (p.Cys296Arg) rs786202207
NM_000314.8(PTEN):c.953T>G (p.Leu318Arg) rs2132283096

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