List of variants reported as likely pathogenic for congenital entropion by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)	rs121918378	0.00006
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)	rs745590426	0.00004
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)	rs370547023	0.00002
NM_001042545.2(LTBP4):c.1426+1G>T
NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)
NM_006907.4(PYCR1):c.575del (p.Gly192fs)
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs)
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	rs119489102
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs)	rs1980007276

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.