ClinVar Miner

List of variants in gene NFKB1 reported as benign for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003998.4(NFKB1):c.1143T>C (p.Ala381=) rs1609993 0.94257
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=) rs4648093 0.02322
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=) rs4648039 0.01547
NM_003998.4(NFKB1):c.1210+16T>C rs4648050
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_003998.4(NFKB1):c.2593-22C>G rs3817685

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