List of variants in gene CYBB reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
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)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NG_009065.1:g.16964_16965insLINE1
NM_000397.4(CYBB):c.1166G>C (p.Gly389Ala)	rs137854586
NM_000397.4(CYBB):c.1244C>A (p.Pro415His)	rs137854585
NM_000397.4(CYBB):c.1462-2A>G	rs2146821097
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly)	rs137854593
NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)	rs137854588
NM_000397.4(CYBB):c.252+5G>A	rs1602175016
NM_000397.4(CYBB):c.252G>A (p.Ala84=)	rs387906485
NM_000397.4(CYBB):c.301C>T (p.His101Tyr)	rs137854594
NM_000397.4(CYBB):c.302A>G (p.His101Arg)	rs137854591
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr)	rs137854590
NM_000397.4(CYBB):c.483+979G>T	rs2146810847
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)	rs151344497
NM_000397.4(CYBB):c.625C>T (p.His209Tyr)	rs137854587
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro)	rs151344498
NM_000397.4(CYBB):c.731G>C (p.Cys244Ser)	rs137854589
NM_000397.4(CYBB):c.907C>A (p.His303Asn)	rs137854595
NM_000397.4(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer)	rs387906486
NM_000397.4(CYBB):c.911C>G (p.Pro304Arg)	rs137854596
NM_000397.4:c.484-262_484-261insLINE1

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