ClinVar Miner

List of variants studied for Chronic granulomatous disease by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000433.3(NCF2):c.-249_-248insA rs35066000 0.06127
NM_000433.4(NCF2):c.*517dup rs573207861 0.00065
NM_000433.4(NCF2):c.*445A>C rs886045647 0.00001
NM_000433.4(NCF2):c.*264AG[2] rs886045650
NM_000433.4(NCF2):c.*393del rs771465757
NM_000433.4(NCF2):c.*393dup rs771465757
NM_000433.4(NCF2):c.*397_*398insTCA rs886045648
NM_000433.4(NCF2):c.*508_*512dup rs555649211
NM_000433.4(NCF2):c.*510T>A rs886045646
NM_000433.4(NCF2):c.*539GTTT[1] rs376681445

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