ClinVar Miner

List of variants reported as likely pathogenic for brittle cornea syndrome 1 by Center for Medical Genetics Ghent, University of Ghent

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.1081del (p.Ala361fs) rs1905872842
NM_001367624.2(ZNF469):c.1586del (p.Gly529fs) rs1905923050
NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs) rs1906662179

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.