ClinVar Miner

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

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Gene type:
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Total variants: 21
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HGVS dbSNP
NC_000008.10:g.(?_90945564)_(90971082_?)dup
NC_000008.10:g.(?_90947800)_(90971092_?)dup
NC_000008.10:g.(?_90947800)_(90996799_?)dup
NC_000008.10:g.(?_90947804)_(90955600_?)dup
NC_000008.10:g.(?_90947804)_(90996795_?)dup
NM_002485.4(NBN):c.*123T>A rs886063167
NM_002485.4(NBN):c.*1823T>C rs556606685
NM_002485.4(NBN):c.*1869_*1872del rs886063163
NM_002485.4(NBN):c.*226T>C rs886063166
NM_002485.4(NBN):c.*364_*393del rs1554553737
NM_002485.4(NBN):c.*401C>G rs104895030
NM_002485.4(NBN):c.*485A>G rs886063165
NM_002485.4(NBN):c.*522T>C rs886063164
NM_002485.4(NBN):c.*983G>A rs13312983
NM_002485.4(NBN):c.*987T>G rs78935210
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.2240A>G (p.Asn747Ser) rs766237464
NM_002485.4(NBN):c.2246A>T (p.Tyr749Phe) rs864622446
NM_002485.4(NBN):c.2250A>T (p.Leu750Phe) rs1554553868
NM_002485.4(NBN):c.2258G>A (p.Arg753Lys) rs773020664
NM_002485.4(NBN):c.2258G>C (p.Arg753Thr) rs773020664

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