ClinVar Miner

List of variants reported as pathogenic for peroxisome biogenesis disorder 2B by OMIM

Included ClinVar conditions (3):

Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	rs61752138

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