ClinVar Miner

List of variants reported as likely pathogenic for ectodermal dysplasia syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)
NM_001399.5(EDA):c.254dup (p.Thr86fs)
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del) rs1800500908
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_020639.3(RIPK4):c.722G>A (p.Arg241His) rs891831110
NM_153717.3(EVC):c.801+1G>T

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.