ClinVar Miner

List of variants in gene NBN reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) rs1554558449
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.803del (p.Thr268fs)
NM_002485.5(NBN):c.995-23_998inv

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