ClinVar Miner

List of variants studied for Kostmann syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.314del (p.Pro105fs) rs2524933144
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.607dup (p.Gln203fs)
NM_006118.4(HAX1):c.622T>A (p.Phe208Ile) rs1684906376

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.