List of variants in gene CEP104, LOC126805587 studied for Joubert syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.1836+7A>G	rs6413779	0.90433
NM_014704.4(CEP104):c.1836+14G>A	rs75027831	0.00632
NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr)	rs140512094	0.00021
NM_014704.4(CEP104):c.1809G>A (p.Ser603=)	rs373264198	0.00005
NM_014704.4(CEP104):c.1660-4A>C	rs1274672044	0.00001
NM_014704.4(CEP104):c.1745del (p.His582fs)	rs1211389550	0.00001
NM_014704.4(CEP104):c.1836+16G>A	rs201343972	0.00001
NM_014704.4(CEP104):c.1702C>T (p.Pro568Ser)
NM_014704.4(CEP104):c.1716G>A (p.Val572=)	rs1570796463

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.