ClinVar Miner

List of variants in gene PEX5 reported as likely pathogenic for Peroxisome biogenesis disorder 2B

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.135_147+32del
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.147+2T>G
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.1561-2A>G rs2136254229
NM_001351132.2(PEX5):c.317-2A>G rs2135903939
NM_001351132.2(PEX5):c.552-1G>A rs1064793563
NM_001351132.2(PEX5):c.753+1G>A
NM_001351132.2(PEX5):c.753+2T>C
NM_001351132.2(PEX5):c.754-2A>C
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.847-7_861del
NM_001351132.2(PEX5):c.966+1G>C rs2136176386
NM_001351132.2(PEX5):c.967-1G>A
NM_001351132.2(PEX5):c.967-1_971del

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.