ClinVar Miner

List of variants in gene NBN reported as pathogenic by OMIM

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Gene type:
ClinVar version:
Total variants: 10
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NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.4(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.4(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.4(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973

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