List of variants in gene CYBA reported as pathogenic for Chronic granulomatous disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)	rs179363892	0.00006
NM_000101.4(CYBA):c.371C>T (p.Ala124Val)	rs179363894	0.00003
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)	rs28941476	0.00001
NM_000101.4(CYBA):c.166dup (p.Arg56fs)	rs1352931329
NM_000101.4(CYBA):c.204-2A>G	rs113932941
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter)	rs779809359
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)	rs104894514
NM_000101.4(CYBA):c.58+4_58+7del	rs771926427
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)	rs104894511

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