ClinVar Miner

List of variants in gene combination EDAR, RANBP2 reported as likely pathogenic 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: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.175-2A>G rs757233170 0.00001
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) rs755654853 0.00001
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg) rs1696610650
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) rs886041005
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met) rs1696608635
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) rs1697319420
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) rs1553444917
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser) rs1696805635

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.