ClinVar Miner

List of variants reported as uncertain significance for Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573

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