ClinVar Miner

List of intergenic variants studied for Epicanthus; Craniosynostosis syndrome; Global developmental delay; Growth delay; Abnormal facial shape; Broad thumb; Cafe-au-lait spot; Depressed nasal bridge; Overlapping toe; Short philtrum; Hypoplastic labia majora; Thin upper lip vermilion; Microcephaly; Strabismus; Accelerated skeletal maturation; Multiple palmar creases; Broad hallux phalanx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
46;XX;t(3;12)(q13.2;q14)dn

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.