ClinVar Miner

List of variants reported as likely benign for eyelid disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00044
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_152281.3(GORAB):c.156G>T (p.Gly52=) rs190850168 0.00001
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)

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.