List of variants studied for autosomal recessive hypohidrotic ectodermal dysplasia by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022336.4(EDAR):c.1124G>A (p.Arg375His)	rs121908454	0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)	rs121908451	0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His)	rs121908450	0.00001
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)	rs121908455	0.00001
NC_000002.12:g.(?_108894471)_(108989220_?)del
NM_022336.4(EDAR):c.51+1G>A	rs797044435
NM_022336.4(EDAR):c.52-25_52-8del	rs1558814967
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	rs797044436
NM_022336.4(EDAR):c.803+1G>A	rs797044437
NM_145861.4(EDARADD):c.120+1G>A	rs879255553
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)	rs74315309

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.