ClinVar Miner

List of variants studied for immune system disorder by Pediatric Genetics Clinic, Sheba Medical Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456

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.