Table 4.
Analysis of enrichment in NFKB1 variants experimentally demonstrated to be deleterious
CohortTotal exomesExomes with deleterious variantFisher’s testOR (95% CI)
HGID-CVID 305 2.78 × 10−15 697.9 (133.2–8,192) 
gnomAD control 60,146 2a 
HGID-CVID EUR 220 5.73 × 10−11 ∞ (102.2–∞) 
gnomAD control NFE 24,146 
CohortTotal exomesExomes with deleterious variantFisher’s testOR (95% CI)
HGID-CVID 305 2.78 × 10−15 697.9 (133.2–8,192) 
gnomAD control 60,146 2a 
HGID-CVID EUR 220 5.73 × 10−11 ∞ (102.2–∞) 
gnomAD control NFE 24,146 

EUR, European; NFE, non-Finnish European.

a

One variant has been reported in patients with CVID.

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