ClinVar Miner

List of variants in gene PTEN reported as not provided

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
GRCh37/hg19 10q23.31(chr10:89685057-89721049)x3
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1026G>A (p.Lys342=) rs398123314
NM_000314.8(PTEN):c.1027-2A>T rs1085308041
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter) rs1554897262
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.21G>C (p.Glu7Asp) rs1554890337
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.634+3_634+7delinsTCTCATCCTTGAATTT
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-2A>C rs1564566706
NM_000314.8(PTEN):c.635-3C>A rs1085308056
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp) rs1554825226
NM_000314.8(PTEN):c.801+1G>T rs786204873
NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)

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