ClinVar Miner

List of variants in gene LONP1 reported as likely pathogenic for CODAS syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004793.4(LONP1):c.2282C>T (p.Pro761Leu) rs373182816 0.00010
NM_004793.4(LONP1):c.2014C>T (p.Arg672Cys) rs777009012 0.00006
NM_004793.4(LONP1):c.1321G>A (p.Glu441Lys) rs745742429
NM_004793.4(LONP1):c.2815T>C (p.Tyr939His) rs1599439595

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.