List of variants reported as uncertain significance 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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003998.4(NFKB1):c.1736G>A (p.Arg579Lys)	rs4648086	0.00016
NM_003998.4(NFKB1):c.1004G>A (p.Arg335Gln)	rs143817570	0.00015
NM_003998.4(NFKB1):c.1126G>A (p.Gly376Ser)	rs150233754	0.00011
NM_003998.4(NFKB1):c.1948G>A (p.Gly650Arg)	rs375088091	0.00007
NM_139239.3(NFKBID):c.773C>T (p.Pro258Leu)	rs748957539	0.00003
NM_003998.4(NFKB1):c.671G>A (p.Ser224Asn)	rs778125529	0.00001
NM_003998.4(NFKB1):c.1870G>A (p.Ala624Thr)
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val)	rs969568429
NM_003998.4(NFKB1):c.2027C>T (p.Ala676Val)	rs1727845506
NM_003998.4(NFKB1):c.2279C>G (p.Ser760Cys)	rs2149227862
NM_003998.4(NFKB1):c.2394T>G (p.Phe798Leu)
NM_003998.4(NFKB1):c.2588A>G (p.Tyr863Cys)
NM_003998.4(NFKB1):c.2745A>G (p.Gln915=)	rs2149232815
NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)
NM_003998.4(NFKB1):c.724G>C (p.Asp242His)	rs2149184850
NM_003998.4(NFKB1):c.731A>G (p.Lys244Arg)	rs2149187183
NM_139239.3(NFKBID):c.506G>T (p.Arg169Leu)	rs768512398

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.