ClinVar Miner

List of variants reported as uncertain significance for peroxisome biogenesis disorder 2A (Zellweger) by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (3):

Peroxisome biogenesis disorder 2A (Zellweger)
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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.230G>A (p.Arg77His)	rs780957318	0.00006
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)	rs148266027	0.00004
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)	rs749729761

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