List of variants studied for CEP290-related ciliopathy by Juno Genomics, Hangzhou Juno Genomics, Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	rs62640581
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)	rs2036824785
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)	rs386834157
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)	rs757309583
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs)	rs2137150860
NM_025114.4(CEP290):c.5803del (p.Glu1935fs)
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	rs281865189

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.