List of variants reported as pathogenic for congenital entropion by Baylor Genetics

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)	rs121918376	0.00014
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)	rs121918377	0.00001
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)	rs797045344
NM_000052.7(ATP7A):c.2774_2775del (p.Thr925fs)
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)	rs1553565140
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	rs1595286986
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	rs80358230

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.