List of variants studied for Peroxisome biogenesis disorder 9B by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.340-71G>A	rs927181	0.98050
NM_000288.4(PEX7):c.130+48_130+53dup	rs11283064	0.50803
NM_000288.4(PEX7):c.340-103A>G	rs2295592	0.10001
NM_000288.4(PEX7):c.803+105A>C	rs72985582	0.04283
NM_000288.4(PEX7):c.-95T>C	rs1321471
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)	rs1220044805

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.