ClinVar Miner

List of variants reported as uncertain significance for Brittle cornea syndrome 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met) rs749374208 0.00001
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile) rs768667107 0.00001
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn) rs967698954
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg) rs1597208940

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.