ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B by Fulgent Genetics,Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257

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.