ClinVar Miner

List of variants in gene PEX13 reported as benign for Peroxisome biogenesis disorder 11A (Zellweger)

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_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822 0.00106
NM_002618.4(PEX13):c.141A>G (p.Ala47=) rs79842991 0.00075
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_002618.4(PEX13):c.913+19G>A rs189410109 0.00006
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) rs550344775
NM_002618.4(PEX13):c.914-8dup rs36090948

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.