ClinVar Miner

List of variants in gene PEX6 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val) rs200115671
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly) rs146571927
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.882+15_882+16del rs555409430
NM_000287.4(PEX6):c.969C>T (p.Ile323=)

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.