List of variants in gene UNC119 reported as benign for cone-rod dystrophy 2

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005148.4(UNC119):c.*1C>T	rs2070139	0.12907
NM_005148.4(UNC119):c.*72C>T	rs1802094	0.02861
NM_005148.4(UNC119):c.*362C>G	rs73278545	0.00312
NM_005148.4(UNC119):c.220+15G>C	rs200265148	0.00198
NM_005148.4(UNC119):c.267C>G (p.Val89=)	rs145710399	0.00084
NM_005148.4(UNC119):c.502C>T (p.Arg168Cys)	rs146916036	0.00053
NM_005148.4(UNC119):c.*140A>G	rs568283544	0.00041
NM_005148.4(UNC119):c.*226C>T	rs80000715	0.00039
NM_005148.4(UNC119):c.663C>T (p.Phe221=)	rs139354163	0.00038
NM_005148.4(UNC119):c.*83G>C	rs566810319	0.00022
NM_005148.4(UNC119):c.234C>T (p.Ser78=)	rs147732652	0.00018
NM_005148.4(UNC119):c.437+7C>T	rs200659406	0.00012
NM_005148.4(UNC119):c.281G>A (p.Arg94Gln)	rs763481567	0.00003
NM_005148.4(UNC119):c.356G>A (p.Arg119Gln)	rs200211619	0.00003

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.