ClinVar Miner

List of variants in gene DOCK2 reported as pathogenic by OMIM

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_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp) rs780318765 0.00001
NM_004946.3(DOCK2):c.3970C>T (p.Gln1324Ter) rs762909359 0.00001
NM_004946.3(DOCK2):c.2229_2230dup (p.Phe744fs) rs2113559002
NM_004946.3(DOCK2):c.2253G>T (p.Arg751Ser) rs1581090174
NM_004946.3(DOCK2):c.3724_3725dup (p.Leu1244fs) rs2113843664

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.