List of variants reported as benign for Cone-rod dystrophy 11 by Illumina Laboratory Services, Illumina

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

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001319074.4(RAX2):c.*866C>T	rs917545	0.79092
NM_001319074.4(RAX2):c.*1366C>G	rs6510769	0.25044
NM_001319074.4(RAX2):c.*785G>A	rs917546	0.20022
NM_001319074.4(RAX2):c.*720G>A	rs917547	0.16734
NM_001319074.4(RAX2):c.*1149C>T	rs1860322	0.15969
NM_001319074.4(RAX2):c.217-8C>T	rs79588413	0.15214
NM_001319074.4(RAX2):c.*680G>A	rs28673245	0.06699
NM_001319074.4(RAX2):c.*902G>T	rs10405125	0.02418
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)	rs76076446	0.01485
NM_001319074.4(RAX2):c.*381A>G	rs73531473	0.01319
NM_001319074.4(RAX2):c.*647T>C	rs112369501	0.01272
NM_001319074.4(RAX2):c.45T>G (p.Gly15=)	rs139127905	0.00450
NM_001319074.4(RAX2):c.*1324A>G	rs138882802	0.00276
NM_001319074.4(RAX2):c.-270C>T	rs776666200	0.00224
NM_001319074.4(RAX2):c.*689C>T	rs115071988	0.00201
NM_001319074.4(RAX2):c.*45C>T	rs139146360	0.00120
NM_001319074.4(RAX2):c.*191C>T	rs150808899	0.00099
NM_001319074.4(RAX2):c.156G>A (p.Pro52=)	rs141804618	0.00058
NM_001319074.4(RAX2):c.-281G>A	rs182965071	0.00048
NM_001319074.4(RAX2):c.-316G>A	rs576680324	0.00048
NM_001319074.4(RAX2):c.*1169G>A	rs554924169	0.00031
NM_001319074.4(RAX2):c.282C>T (p.Ala94=)	rs201021639	0.00027
NM_001319074.4(RAX2):c.*1054C>T	rs368356816	0.00014
NM_001319074.4(RAX2):c.*679C>T	rs576669713	0.00001
NM_001319074.4(RAX2):c.217-10C>T	rs772762463	0.00001

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.