List of variants reported as likely benign for Hypohidrotic ectodermal dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)	rs114632254	0.02153
NM_022336.4(EDAR):c.*1366A>G	rs187951842	0.00322
NM_145861.4(EDARADD):c.*1438C>T	rs201710490	0.00217
NM_022336.4(EDAR):c.*1364T>G	rs147757790	0.00105
NM_022336.4(EDAR):c.731-4G>T	rs201539805	0.00035
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)	rs760731007	0.00014
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu)	rs748806220	0.00006
NM_022336.4(EDAR):c.675G>A (p.Pro225=)	rs746044070	0.00005
NM_022336.4(EDAR):c.156G>A (p.Pro52=)	rs3749101	0.00004
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr)	rs370972367	0.00004
NM_145861.4(EDARADD):c.600C>T (p.Asp200=)	rs74942492	0.00003
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp)	rs759461234	0.00001
NM_022336.4(EDAR):c.1017C>T (p.Val339=)	rs201434694
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)	rs375891208
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp)	rs781652310

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.