ClinVar Miner

List of variants reported as pathogenic for leukopenia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) rs2133808512
NM_152564.5(VPS13B):c.5908+2dup rs587777381

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.