ClinVar Miner

List of variants in gene NBN reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.38-19A>T rs766849651 0.00008
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.1008A>T (p.Thr336=) rs786201619
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.480+4G>A rs1812019530

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