ClinVar Miner

List of variants reported as pathogenic for Granulomatous disease, chronic, X-linked by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.1271G>A (p.Trp424Ter)	rs2146818057
NM_000397.4(CYBB):c.190T>C (p.Cys64Arg)	rs2146804063
NM_000397.4(CYBB):c.752G>A (p.Trp251Ter)	rs2146813725

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