ClinVar Miner

List of variants reported as pathogenic for Microcephaly, normal intelligence and immunodeficiency by Integrated Genetics/Laboratory Corporation of America

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Total variants: 3
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HGVS dbSNP
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_001024688.2(NBN):c.452_455del (p.Lys151fs) rs587780100
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857

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