ClinVar Miner

List of variants reported as pathogenic for Microcephaly, normal intelligence and immunodeficiency by Genetic Services Laboratory, University of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100

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