List of variants in gene CCNO reported as pathogenic for ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021147.5(CCNO):c.638T>C (p.Leu213Pro)	rs775051461	0.00006
NM_021147.5(CCNO):c.775C>T (p.Gln259Ter)	rs1060503388	0.00001
NM_021147.5(CCNO):c.165del (p.Gly56fs)	rs1561121987
NM_021147.5(CCNO):c.192del (p.Ser65fs)
NM_021147.5(CCNO):c.327dup (p.Lys110fs)
NM_021147.5(CCNO):c.427dup (p.Val143fs)	rs1436895387
NM_021147.5(CCNO):c.476del (p.Asn159fs)
NM_021147.5(CCNO):c.481_482del (p.Leu161fs)	rs587777503
NM_021147.5(CCNO):c.482_483del (p.Leu161fs)
NM_021147.5(CCNO):c.538dup (p.Val180fs)	rs774393276
NM_021147.5(CCNO):c.746del (p.Gln249fs)	rs1745583820
NM_021147.5(CCNO):c.793del (p.Val265fs)	rs769899297
NM_021147.5(CCNO):c.875_897del (p.Asp292fs)	rs1176911729
NM_021147.5(CCNO):c.906del (p.Leu303fs)	rs2111713642
NM_021147.5(CCNO):c.926del (p.Pro309fs)	rs587777500
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)	rs587777501

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.