List of variants in gene NFKB1 reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_003998.4(NFKB1):c.1005del (p.Arg336fs)	rs1578795536
NM_003998.4(NFKB1):c.1423del (p.Ala475fs)	rs1578809101
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs)	rs1578811073
NM_003998.4(NFKB1):c.1621_1622del (p.Gln540_Asp541insTer)	rs1578811245
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser)	rs1578771120
NM_003998.4(NFKB1):c.293T>A (p.Val98Asp)	rs1578771197
NM_003998.4(NFKB1):c.295C>T (p.Gln99Ter)	rs1578771211
NM_003998.4(NFKB1):c.830dup (p.Lys278fs)	rs1578790573
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met)	rs1578793298
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)	rs1578793312
Single allele

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