ClinVar Miner

List of variants reported as benign for Microcephaly, normal intelligence and immunodeficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_002485.4(NBN):c.*1209A>C rs1063054
NM_002485.4(NBN):c.*1754T>C rs9995
NM_002485.4(NBN):c.*1977T>C rs14448
NM_002485.4(NBN):c.*273G>A rs1063053
NM_002485.4(NBN):c.*541G>C rs2735383
NM_002485.4(NBN):c.102G>A (p.Leu34=) rs1063045
NM_002485.4(NBN):c.1197T>C (p.Asp399=) rs709816
NM_002485.4(NBN):c.1915-7A>G rs2308962
NM_002485.4(NBN):c.2016A>G (p.Pro672=) rs1061302
NM_002485.4(NBN):c.553G>C (p.Glu185Gln) rs1805794

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