List of variants in gene CYBB studied for Chronic granulomatous disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.1002G>A (p.Lys334=)	rs2228117	0.05579
NM_000397.4(CYBB):c.686G>A (p.Arg229His)	rs139670417	0.00106
NM_000397.4(CYBB):c.46-7T>C	rs182039020	0.00070
NM_000397.4(CYBB):c.6G>C (p.Gly2=)	rs372462475	0.00029
NM_000397.4(CYBB):c.1689C>T (p.Phe563=)	rs567830215	0.00023
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)	rs13306300	0.00018
NM_000397.4(CYBB):c.483+978G>A	rs1031189017	0.00015
NM_000397.4(CYBB):c.675-4C>T	rs782223666	0.00013
NM_000397.4(CYBB):c.969A>G (p.Gln323=)	rs144764222	0.00012
NM_000397.4(CYBB):c.142-12C>T	rs13306298	0.00009
NM_000397.4(CYBB):c.1587-6C>T	rs369705608	0.00008
NM_000397.4(CYBB):c.1158G>A (p.Ala386=)	rs374511592	0.00007
NM_000397.4(CYBB):c.1340A>T (p.Asp447Val)	rs781944350	0.00007
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr)	rs201356986	0.00007
NM_000397.4(CYBB):c.1203T>C (p.Tyr401=)	rs782312337	0.00006
NM_000397.4(CYBB):c.1701G>A (p.Lys567=)	rs140774378	0.00005
NM_000397.4(CYBB):c.1413C>T (p.Ala471=)	rs782094378	0.00004
NM_000397.4(CYBB):c.171A>G (p.Ala57=)	rs781824754	0.00004
NM_000397.4(CYBB):c.348C>T (p.Thr116=)	rs782735382	0.00004
NM_000397.4(CYBB):c.388C>A (p.Arg130=)	rs180899069	0.00004
NM_000397.4(CYBB):c.1581C>T (p.His527=)	rs781915934	0.00003
NM_000397.4(CYBB):c.1137G>A (p.Ala379=)	rs1435916818	0.00002
NM_000397.4(CYBB):c.1249G>A (p.Ala417Thr)	rs782094658	0.00002
NM_000397.4(CYBB):c.1300C>T (p.Leu434=)	rs781891223	0.00002
NM_000397.4(CYBB):c.1427A>G (p.Tyr476Cys)	rs782358158	0.00002
NM_000397.4(CYBB):c.1641T>C (p.Ser547=)	rs771661205	0.00002
NM_000397.4(CYBB):c.452G>A (p.Ser151Asn)	rs782500733	0.00002
NM_000397.4(CYBB):c.562T>C (p.Leu188=)	rs782410841	0.00002
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr)	rs782096963	0.00002
NM_000397.4(CYBB):c.674+1081G>A	rs1479015615	0.00002
NM_000397.4(CYBB):c.10T>A (p.Trp4Arg)	rs782495755	0.00001
NM_000397.4(CYBB):c.126A>G (p.Thr42=)	rs782767053	0.00001
NM_000397.4(CYBB):c.141+7A>T	rs781828311	0.00001
NM_000397.4(CYBB):c.1462-7C>A	rs371707791	0.00001
NM_000397.4(CYBB):c.1617T>C (p.Pro539=)	rs187038548	0.00001
NM_000397.4(CYBB):c.542T>C (p.Val181Ala)	rs1929299081	0.00001
NM_000397.4(CYBB):c.549G>A (p.Thr183=)	rs1556468340	0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NM_000397.4(CYBB):c.698C>T (p.Ala233Val)	rs782174347	0.00001
NM_000397.4(CYBB):c.8A>C (p.Asn3Thr)	rs782014879	0.00001
NM_000397.4(CYBB):c.1032C>G (p.Ser344=)	rs782193225
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr)	rs1929532655
NM_000397.4(CYBB):c.216T>C (p.Cys72=)	rs782202693
NM_000397.4(CYBB):c.328C>T (p.Leu110Phe)	rs1929209834
NM_000397.4(CYBB):c.336T>C (p.Ser112=)	rs1447228298
NM_000397.4(CYBB):c.483+1G>T	rs1131691828
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)	rs151344497
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro)	rs151344498

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