ClinVar Miner

List of variants in gene NBN reported as likely benign 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: 16
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.896+36G>A rs1805826 0.03920
NM_002485.5(NBN):c.896+27A>C rs114182293 0.01326
NM_002485.5(NBN):c.703-29C>T rs104895034 0.01231
NM_002485.5(NBN):c.897-42G>C rs141172426 0.00725
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00507
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00263
NM_002485.5(NBN):c.1398-19C>T rs201495716 0.00157
NM_002485.5(NBN):c.585-42_585-40del rs549655616 0.00099
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_002485.5(NBN):c.1124+55T>C rs140614752 0.00064
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.2093A>G (p.Lys698Arg) rs2130756107 0.00001
NM_002485.5(NBN):c.703-43dup rs1305622125
NM_002485.5(NBN):c.750G>A (p.Arg250=) rs758852942

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