ClinVar Miner

List of variants reported as pathogenic for Marie Unna hereditary hypotrichosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HR, 1-BP DEL, 1256C
HR, 1-BP DEL, 2147C
HR, 1-BP DEL, 3434C
HR, 2-BP DEL, 2847AG
HR, 21-BP DEL, NT1261
HR, IVS12DS, G-A, +1
NM_005144.4(HR):c.-218A>G rs267606869
NM_005144.4(HR):c.-249C>G rs267606868
NM_005144.4(HR):c.-315C>T rs267606867
NM_005144.4(HR):c.-320T>C rs387906382
NM_005144.4(HR):c.1837C>T (p.Arg613Ter) rs121434449
NM_005144.4(HR):c.2776+1G>A rs773764015
NM_005144.4(HR):c.3034G>A (p.Asp1012Asn) rs121434451
NM_005144.4(HR):c.3407T>A (p.Val1136Asp) rs121434448
NM_005144.4(HR):c.3526C>T (p.Gln1176Ter) rs121434450
NM_005144.5(HR):c.1997_2000CCAG[1] (p.Ser667fs) rs1477806230

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.