ClinVar Miner

List of variants in gene CEP104 reported as pathogenic for Joubert syndrome 25

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter) rs374574638 0.00004
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855 0.00001
NC_000001.11:g.3823227_3823243del
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) rs776094913
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs) rs869025277
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)
NM_014704.4(CEP104):c.2572-2A>G rs869025278
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer) rs1484807480
NM_014704.4(CEP104):c.735+2T>C rs869025276

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.