ClinVar Miner

List of variants in gene PEX2 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NC_000008.10:g.(?_77892493)_(77912525_?)del
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)

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