ClinVar Miner

List of variants studied for Neonatal adrenoleucodystrophy; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) rs146567534
NM_001131025.2(PEX5):c.230G>A rs780957318
NM_001131025.2(PEX5):c.533G>A rs749729761

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.