ClinVar Miner

List of variants reported as likely benign for Nijmegen breakage syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.*2129G>T rs117807915 0.01258
NM_002485.5(NBN):c.*1222A>C rs13312985 0.00662
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.*1583G>A rs139384734

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