ClinVar Miner

List of variants reported as benign for autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031229.4(RBCK1):c.168-242C>T rs6115906 0.81169
NM_031229.4(RBCK1):c.918-61A>G rs2057251 0.71409
NM_031229.4(RBCK1):c.22+33C>T rs3746792 0.44804
NM_031229.4(RBCK1):c.1029+39C>G rs6051905 0.32396
NM_031229.4(RBCK1):c.282C>T (p.Phe94=) rs753580979

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.