ClinVar Miner

List of variants in gene JAGN1 reported as pathogenic for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729

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.