List of variants reported as likely pathogenic for Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

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Total variants: 18

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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.369+1G>A	rs905944088	0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)	rs28941476	0.00001
NM_000101.4(CYBA):c.128+2T>C	rs1191361764
NM_000101.4(CYBA):c.129-1G>T	rs1445023836
NM_000101.4(CYBA):c.166del (p.Arg56fs)	rs1352931329
NM_000101.4(CYBA):c.203+102_404del
NM_000101.4(CYBA):c.268C>G (p.Arg90Gly)	rs179363892
NM_000101.4(CYBA):c.287+2_287+3del	rs2142875237
NM_000101.4(CYBA):c.288-1G>A
NM_000101.4(CYBA):c.288-1G>T
NM_000101.4(CYBA):c.288-3_300del	rs1567608830
NM_000101.4(CYBA):c.295_301del (p.Val99fs)
NM_000101.4(CYBA):c.345del (p.Ile116fs)	rs2142873834
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)	rs104894514
NM_000101.4(CYBA):c.385G>T (p.Glu129Ter)
NM_000101.4(CYBA):c.58+2T>C

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