ClinVar Miner

List of variants in gene PEX2 reported as pathogenic for Zellweger syndrome

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) rs1586069639
NM_000318.3(PEX2):c.547_548AT[1] (p.Ile183fs)
NM_000318.3(PEX2):c.550del (p.Cys184fs) rs63545361
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) rs61752128

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