ClinVar Miner

List of variants in gene combination ANGPTL3, DOCK7 reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_62921085)_(63153935_?)del
NC_000001.10:g.(?_62976228)_(63153935_?)del
NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs) rs398122988

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.