ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_002485.4(NBN):c.*1013G>A rs13312984
NM_002485.4(NBN):c.*1692A>G rs13312986
NM_002485.4(NBN):c.*1961T>C rs13312987
NM_002485.4(NBN):c.*2212G>A rs10464867
NM_002485.4(NBN):c.*419C>T rs13312979
NM_002485.4(NBN):c.*757A>G rs13312981
NM_002485.4(NBN):c.*790T>G rs11987887
NM_002485.4(NBN):c.*937T>C rs11987865
NM_002485.4(NBN):c.2244T>A (p.Pro748=) rs1554553884

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