ClinVar Miner

List of variants reported as likely pathogenic 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: 3

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

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