List of variants in gene PEX2 reported as likely pathogenic for Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	rs61752124	0.00001
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)	rs200065382
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)	rs1554584505
NM_000318.3(PEX2):c.472del (p.Leu158fs)	rs1554584487
NM_000318.3(PEX2):c.502_503del (p.Glu168fs)	rs1554584474

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