ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00283
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00015
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000287.4(PEX6):c.1A>G (p.Met1Val) rs1212487109
NM_000287.4(PEX6):c.2795_2799del (p.Asp932fs)

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.