ClinVar Miner

List of variants in gene PTEN reported by Baylor Genetics

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.451G>A (p.Ala151Thr) rs1859982098 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121 0.00001
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
NM_000314.8(PTEN):c.-17G>C rs1064793744
NM_000314.8(PTEN):c.-39TC[2] rs1064795965
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1048dup (p.Thr350fs) rs797045066
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1131_1132del (p.Tyr377_Arg378delinsTer) rs1860737554
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.165-5T>G
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.208C>T (p.Leu70Phe) rs794727480
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs) rs1859964600
NM_000314.8(PTEN):c.278_322del (p.His93_Asp107del)
NM_000314.8(PTEN):c.298C>G (p.Leu100Val) rs1589646100
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.353_354insGA (p.His118fs)
NM_000314.8(PTEN):c.359del (p.Ala120fs)
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.473_476dup (p.Arg159fs)
NM_000314.8(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.496G>A (p.Val166Ile) rs780943695
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.622G>A (p.Gly208Ser) rs1860425648
NM_000314.8(PTEN):c.635-5T>G
NM_000314.8(PTEN):c.677C>T (p.Ser226Phe) rs2132276728
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.703G>A (p.Glu235Lys)
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.848C>T (p.Pro283Leu) rs1860619820
NM_000314.8(PTEN):c.886T>C (p.Cys296Arg) rs786202207
NM_000314.8(PTEN):c.89C>T (p.Pro30Leu) rs1589617164
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala) rs1171478249

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