ClinVar Miner

List of variants in gene PTEN reported as pathogenic by Baylor Genetics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1048dup (p.Thr350fs) rs797045066
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.412dup (p.Tyr138fs)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219

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