ClinVar Miner

List of variants in gene CEP290 reported as pathogenic for Meckel syndrome type 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
CEP290, 1-BP DEL, 5489A
CEP290, 4-BP DEL, 384TAGA
CEP290, EX3, T-A, +2
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.5745dup (p.Lys1916Terfs) rs751361090
NM_025114.3(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185

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.