ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 1A (Zellweger) by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA rs141721291
NM_001351132.2(PEX5):c.551+113_551+114dup rs5796268

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.