ClinVar Miner

List of variants in gene combination LOC106029312, NCF1 reported as likely pathogenic for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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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

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