ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 12 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003998.4(NFKB1):c.159+1G>A rs1741461840
NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter) rs1724875502
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del

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