List of variants reported as uncertain significance for congenital hereditary endothelial dystrophy of cornea

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)	rs3827075	0.49054
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	rs138262189	0.00042
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)	rs143965185	0.00029
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)	rs752287261	0.00005
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	rs751797233	0.00003
NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val)	rs771135532	0.00002
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	rs762942751	0.00001
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)
NM_001174089.2(SLC4A11):c.1423GAG[1] (p.Glu476del)
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	rs755379986
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)	rs1482631297
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	rs2122588507
NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr)	rs1939636114

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.