List of variants in gene CEP290 reported as uncertain significance by Blueprint Genetics

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	rs139998038	0.00187
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)	rs371159780	0.00080
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)	rs142038791	0.00049
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=)	rs201160801	0.00029
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)	rs374656545	0.00019
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)	rs11831931	0.00011
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	rs748034744	0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)	rs762633090	0.00001
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)	rs779010679
NM_025114.4(CEP290):c.3282T>G (p.Asn1094Lys)	rs1565855129
NM_025114.4(CEP290):c.4813-4A>G	rs2036324053
NM_025114.4(CEP290):c.6646-18A>G	rs978362109

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.