ClinVar Miner

List of variants studied for Chronic granulomatous disease by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) rs387906808 0.00004
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs) rs869025585 0.00002
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) rs104894515
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498

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