ClinVar Miner

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

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Total variants: 6
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NM_001024688.2(NBN):c.1274_1277ATCT[1] (p.Ser427fs) rs1554558449
NM_002485.4(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.897-2A>T rs864622090

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