List of variants in gene NFKB1 reported as pathogenic for Immunodeficiency, common variable, 12

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_003998.4(NFKB1):c.1012del (p.Ser338fs)	rs2149192665
NM_003998.4(NFKB1):c.139del (p.Ile47fs)	rs2149123423
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs)	rs1578811073
NM_003998.4(NFKB1):c.159+1G>A	rs1741461840
NM_003998.4(NFKB1):c.169C>T (p.Arg57Cys)	rs1040399901
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser)	rs1578771120
NM_003998.4(NFKB1):c.407+2T>G	rs2149168346
NM_003998.4(NFKB1):c.418_427del (p.Leu140fs)	rs1724867456
NM_003998.4(NFKB1):c.465dup (p.Ala156fs)	rs869320754
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter)	rs2149181831
NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter)	rs1724875502
NM_003998.4(NFKB1):c.730+4A>G	rs869320688
NM_003998.4(NFKB1):c.835+2T>G	rs869320689
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)	rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113

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