ClinVar Miner

List of variants in gene NBN reported as uncertain significance by National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00007
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00005
NM_002485.5(NBN):c.584+46G>A rs1036822606
NM_002485.5(NBN):c.703-3dup rs1811467593

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