ClinVar Miner

List of variants in gene PTEN reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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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.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.802-12T>C rs587781129 0.00015
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.-6C>A rs1554890322
NM_000314.8(PTEN):c.1083T>C (p.Ser361=) rs2132289564
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>A rs1114167650
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.218A>G (p.Glu73Gly) rs2132238743
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000314.8(PTEN):c.492+1del rs1564830522
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392

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