List of variants reported as pathogenic for Chronic granulomatous disease

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	rs145360423	0.00054
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)	rs179363892	0.00006
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)	rs387906808	0.00004
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_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val)	rs137854508	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
NM_000397.4(CYBB):c.483+1G>T	rs1131691828
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.623_624del (p.Val208fs)

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