List of variants in gene IKZF1 reported as uncertain significance for B cell deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu)	rs752909152	0.00007
NM_006060.6(IKZF1):c.1047G>C (p.Gln349His)	rs937630364	0.00001
NM_006060.6(IKZF1):c.161-15019A>G	rs1805227150
NM_006060.6(IKZF1):c.369G>A (p.Gly123=)	rs2153470067
NM_006060.6(IKZF1):c.548G>A (p.Arg183His)	rs1812172495
NM_006060.6(IKZF1):c.589+1G>A
NM_006060.6(IKZF1):c.715+167C>T	rs549144523
NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)
NM_006060.6(IKZF1):c.880G>C (p.Asp294His)

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.