ClinVar Miner

List of variants in gene PEX2 studied for Peroxisome biogenesis disorder 5B

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) rs750212948 0.00004
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00002
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000318.3(PEX2):c.666A>G (p.Ser222=) rs1806901488 0.00001
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg) rs756496949 0.00001
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.320C>A (p.Ala107Asp)
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.483A>G (p.Gly161=) rs2132043885
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_000318.3(PEX2):c.834_838del (p.Phe278fs) rs267608188
NM_000318.3(PEX2):c.865dup (p.Ser289fs) rs724160029

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