ClinVar Miner

List of variants reported as uncertain significance for Cystinosis by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_004937.3(CTNS):c.*1024_*1030delinsTGAAGCTGTC rs886052872
NM_004937.3(CTNS):c.*1033_*1034insGGC rs397831765
NM_004937.3(CTNS):c.*1046_*1047dup rs772764926
NM_004937.3(CTNS):c.*1047dup rs772764926
NM_004937.3(CTNS):c.*1176_*1179del rs886052875
NM_004937.3(CTNS):c.*1956_*1957del rs397856854
NM_004937.3(CTNS):c.*1957dup rs397856854
NM_004937.3(CTNS):c.-23AG[1] rs550436044

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.