ClinVar Miner

List of variants studied for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs) rs1584370623
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) rs4029402

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