List of variants in gene EDNRB reported as uncertain significance for Waardenburg 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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001122659.3(EDNRB):c.-26G>A	rs2070591	0.00043
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)	rs144565124	0.00022
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile)	rs201437745	0.00002
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)	rs760677132	0.00001
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val)	rs1212186974	0.00001
NM_001122659.3(EDNRB):c.*859C>T	rs886050324
NM_001122659.3(EDNRB):c.918_921del	rs760796267
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val)	rs2137603390
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter)	rs1566302937
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)	rs2137599519
NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)
NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)

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.