ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_025114.3(CEP290):c.1190-2A>G rs200818935
NM_025114.3(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.3(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.3(CEP290):c.2351T>A (p.Leu784Ter) rs1206723575
NM_025114.3(CEP290):c.2682_2683insA (p.Ser895Ilefs) rs1555216730
NM_025114.3(CEP290):c.268A>T (p.Lys90Ter) rs1057517886
NM_025114.3(CEP290):c.3012delA (p.Glu1005Asnfs) rs1555213204
NM_025114.3(CEP290):c.3097A>T (p.Lys1033Ter) rs1555213161
NM_025114.3(CEP290):c.3190delA (p.Met1064Terfs) rs786205620
NM_025114.3(CEP290):c.3777_3778delAG (p.Arg1259Serfs) rs765483163
NM_025114.3(CEP290):c.3784_3785insTT (p.His1262Leufs) rs1064797171
NM_025114.3(CEP290):c.4029G>A (p.Lys1343=) rs1057519245
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4705-1G>T rs777464278
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.5012+2T>C rs1369768287
NM_025114.3(CEP290):c.6135+2T>A rs1555200648
NM_025114.3(CEP290):c.6516delA (p.Lys2172Asnfs) rs1057519165
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374

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.