ClinVar Miner

List of variants in gene CEP290 studied for Retinitis pigmentosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2390delA (p.Lys797Serfs) rs781670422
NM_025114.3(CEP290):c.2691A>G (p.Ile897Met)
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) rs281865188
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832

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.