List of variants reported as likely pathogenic for Immunodeficiency, common variable, 12

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val)	rs1354534120	0.00001
GRCh37/hg19 4q24(chr4:102851823-104641864)
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
NM_003998.4(NFKB1):c.1210+1G>A	rs2149203552
NM_003998.4(NFKB1):c.1752+1G>A	rs1560711146
NM_003998.4(NFKB1):c.2227+1G>A	rs2149222635
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2671del (p.Ala891fs)	rs1728635624
NM_003998.4(NFKB1):c.317dup (p.Asn106fs)	rs1560679469
NM_003998.4(NFKB1):c.407+1G>A	rs1723945421
NM_003998.4(NFKB1):c.730+4A>G	rs869320688
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_003998.4(NFKB1):c.988G>A (p.Val330Met)	rs2149192634
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del

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.