ClinVar Miner

List of variants in gene IFIH1 studied for Immunodeficiency 95

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu) rs117608083 0.00021
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter) rs1252022173
NM_022168.4(IFIH1):c.2730C>A (p.Cys910Ter)
NM_022168.4(IFIH1):c.2808-7C>T
NM_022168.4(IFIH1):c.317C>A (p.Ser106Ter) rs764380346
NM_022168.4(IFIH1):c.875-11A>G

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.