ClinVar Miner

List of variants in gene HUWE1 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.2262-17C>A rs143891272 0.01465
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_031407.7(HUWE1):c.11497G>C (p.Gly3833Arg) rs782335134
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864

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.