ClinVar Miner

List of variants reported as likely benign for autosomal recessive hypohidrotic ectodermal dysplasia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_145861.4(EDARADD):c.*682G>A rs61740486 0.02320
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_145861.4(EDARADD):c.*678A>C rs61740488 0.01970
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_022336.4(EDAR):c.*1366A>G rs187951842 0.00322
NM_145861.4(EDARADD):c.*1438C>T rs201710490 0.00217
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_022336.4(EDAR):c.*1364T>G rs147757790 0.00105
NM_022336.4(EDAR):c.227C>T (p.Ala76Val) rs143471570 0.00077
NM_022336.4(EDAR):c.731-4G>T rs201539805 0.00035
NM_022336.4(EDAR):c.1119G>A (p.Thr373=) rs144939741 0.00016
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_022336.4(EDAR):c.1209G>A (p.Thr403=) rs200198949 0.00002
NM_022336.4(EDAR):c.1059C>T (p.Leu353=) rs777416175 0.00001
NM_022336.4(EDAR):c.708C>T (p.Asp236=) rs751689993 0.00001
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp) rs759461234 0.00001
NM_022336.4(EDAR):c.1017C>A (p.Val339=) rs201434694
NM_022336.4(EDAR):c.1017C>T (p.Val339=) rs201434694
NM_022336.4(EDAR):c.1025-14A>G
NM_022336.4(EDAR):c.102C>T (p.Asn34=)
NM_022336.4(EDAR):c.1128C>T (p.His376=)
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) rs375891208
NM_022336.4(EDAR):c.219C>G (p.Pro73=)
NM_022336.4(EDAR):c.360C>T (p.Tyr120=) rs1574381304
NM_022336.4(EDAR):c.656-16C>A
NM_022336.4(EDAR):c.78G>A (p.Ala26=)
NM_022336.4(EDAR):c.804-17C>T
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp) rs781652310
NM_022336.4(EDAR):c.850G>A (p.Val284Ile)
NM_022336.4(EDAR):c.913C>T (p.Leu305=)
NM_022336.4(EDAR):c.922C>T (p.Leu308=)
NM_022336.4(EDAR):c.964-16C>T
NM_145861.4(EDARADD):c.147G>A (p.Thr49=)
NM_145861.4(EDARADD):c.161-17_161-15del
NM_145861.4(EDARADD):c.570C>T (p.Asp190=)
NM_145861.4(EDARADD):c.62-18T>C

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.