ClinVar Miner

List of variants reported as likely benign for Exudative vitreoretinopathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_012193.4(FZD4):c.*2302A>G rs142087983 0.00066
NM_012193.4(FZD4):c.48C>T (p.Gly16=) rs373565387 0.00016
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282 0.00014
NM_012193.4(FZD4):c.379C>T (p.Arg127Cys) rs376854255 0.00005
NM_012193.4(FZD4):c.1517A>G (p.Lys506Arg) rs769786110 0.00002
NM_012193.4(FZD4):c.1477A>G (p.Met493Val) rs1050752347

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.