List of variants studied for autoinflammatory syndrome of childhood by Genetics and Molecular Pathology, SA Pathology

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022168.4(IFIH1):c.2807+1G>A	rs35732034	0.00502
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)	rs72650663	0.00253
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)	rs74317375	0.00227
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp)	rs143115096	0.00032
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)	rs372632599	0.00002

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.