ClinVar Miner

List of variants in gene NBN reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_001024688.2(NBN):c.452_455del (p.Lys151fs) rs587780100
NM_001024688.2(NBN):c.896del (p.Pro299fs) rs587781969
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.842T>G rs786205135
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650

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