List of variants in gene EDNRB reported as pathogenic for Waardenburg-Shah syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	rs104894387	0.00003
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)
NM_001122659.3(EDNRB):c.521del (p.Cys174fs)	rs1458799604
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)	rs104894388
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	rs768126403
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)	rs104894391
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	rs104894390

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.