ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
NM_000168.6(GLI3):c.4436T>C (p.Leu1479Ser) rs1057519504
NM_001854.4(COL11A1):c.4519-2del rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910

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.