ClinVar Miner

List of variants in gene EDARADD reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) rs954823206 0.00001
NC_000001.11:g.236468231_236468234del
NM_145861.4(EDARADD):c.120+1G>A rs879255553
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter) rs766500689
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) rs200017138
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) rs1657345576

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.