ClinVar Miner

List of variants in gene combination NBN, OSGIN2 reported as likely pathogenic for Microcephaly, normal intelligence and immunodeficiency

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Total variants: 6
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HGVS dbSNP
NC_000008.10:g.(?_90947800)_(90949313_?)del
NC_000008.10:g.(?_90947804)_(90949309_?)del
NC_000008.10:g.(?_90947804)_(90993757_?)del
NM_002485.4(NBN):c.2185-?_*(1_?)del
NM_002485.4(NBN):c.2235-2A>G rs767094704
NM_002485.4(NBN):c.2238C>G (p.Tyr746Ter) rs751570713

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