ClinVar Miner

List of variants in gene EDARADD reported as benign for autosomal dominant hypohidrotic ectodermal dysplasia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_145861.4(EDARADD):c.62-41A>G rs669710 0.53840
NM_145861.4(EDARADD):c.161-33G>C rs636048 0.44828
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_145861.4(EDARADD):c.121-19C>T rs12064562 0.01338
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_145861.4(EDARADD):c.161-6del rs555177993
NM_145861.4(EDARADD):c.161-6dup rs555177993

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.