ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 12 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val) rs969568429
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109

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