ClinVar Miner

List of variants in gene CEP290 studied for Leber congenital amaurosis 10

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
CEP290, 4-BP DEL, 384TAGA
CEP290, 5-BP DEL, 1260TAAAG
NM_025114.3(CEP290):c.1711+1G>A rs587783009
NM_025114.3(CEP290):c.2248_2249delTT (p.Leu750Thrfs) rs587783010
NM_025114.3(CEP290):c.2249T>G (p.Leu750Ter) rs137852833
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017

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.