ClinVar Miner

List of variants in gene PTEN reported by Genetic Services Laboratory, University of Chicago

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.-461G>A rs1209261790 0.00114
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-734G>A rs786205432 0.00013
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.-111G>T rs761148721 0.00006
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.-216C>T rs1858381810 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.-462G>A rs886047388
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.1016del (p.Pro339fs) rs1554825643
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.226_228del (p.Tyr76del) rs1554897864
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu) rs1554898127
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser) rs1859977029
NM_000314.8(PTEN):c.410C>G (p.Ala137Gly)
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.634+5G>T rs138336847
NM_000314.8(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904

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