ClinVar Miner

List of variants studied for Granulomatous disease, chronic, X-linked by Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000265.7(NCF1):c.269G>A (p.Arg90His) rs201802880 0.00110
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) rs4029402
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg) rs1556471150
NM_000397.4(CYBB):c.252+5G>C rs1602175016

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