List of variants in gene CYBB reported as pathogenic for not provided

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: 50

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HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.1662dup (p.Glu555Ter)	rs1453468510	0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
GRCh37/hg19 Xp11.4(chrX:37639331-37670170)x0
NM_000397.4(CYBB):c.1006G>T (p.Glu336Ter)	rs1556470794
NM_000397.4(CYBB):c.1010G>A (p.Trp337Ter)	rs1929500338
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter)	rs1602183244
NM_000397.4(CYBB):c.1151+2T>C
NM_000397.4(CYBB):c.1152-2A>G	rs2146817932
NM_000397.4(CYBB):c.1223G>A (p.Gly408Glu)	rs151344474
NM_000397.4(CYBB):c.1244C>A (p.Pro415His)	rs137854585
NM_000397.4(CYBB):c.1272G>A (p.Trp424Ter)	rs886041195
NM_000397.4(CYBB):c.1275C>G (p.Tyr425Ter)	rs1602183679
NM_000397.4(CYBB):c.141+1G>A	rs1556464581
NM_000397.4(CYBB):c.141+1G>T	rs1556464581
NM_000397.4(CYBB):c.1449G>A (p.Trp483Ter)	rs886039338
NM_000397.4(CYBB):c.1462-56_1586+68dup	rs1556472628
NM_000397.4(CYBB):c.1498G>C (p.Asp500His)	rs886039563
NM_000397.4(CYBB):c.1498G>T (p.Asp500Tyr)
NM_000397.4(CYBB):c.1573del (p.Ser525fs)	rs886041582
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg)	rs151344454
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu)	rs151344481
NM_000397.4(CYBB):c.1A>G (p.Met1Val)	rs2146801935
NM_000397.4(CYBB):c.210dup (p.Val71fs)	rs1556464882
NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)	rs137854588
NM_000397.4(CYBB):c.23_26dup (p.Leu10fs)	rs886041191
NM_000397.4(CYBB):c.252G>A (p.Ala84=)	rs387906485
NM_000397.4(CYBB):c.271C>T (p.Arg91Ter)	rs886041192
NM_000397.4(CYBB):c.337+1G>T	rs886039333
NM_000397.4(CYBB):c.338-1G>C	rs2146810198
NM_000397.4(CYBB):c.388del (p.Arg130fs)	rs886041193
NM_000397.4(CYBB):c.418del (p.Ala140fs)
NM_000397.4(CYBB):c.448G>T (p.Glu150Ter)	rs886039334
NM_000397.4(CYBB):c.469C>T (p.Arg157Ter)	rs886039335
NM_000397.4(CYBB):c.483+1G>A	rs1131691828
NM_000397.4(CYBB):c.483+1G>T	rs1131691828
NM_000397.4(CYBB):c.484-2A>T	rs886039336
NM_000397.4(CYBB):c.54_79del (p.Trp18fs)	rs1556464542
NM_000397.4(CYBB):c.565_568del (p.Ile189fs)	rs886041312
NM_000397.4(CYBB):c.602_605dup (p.Phe202fs)	rs1556468363
NM_000397.4(CYBB):c.674+4_674+7del	rs1057517730
NM_000397.4(CYBB):c.742dup (p.Ile248fs)	rs886041194
NM_000397.4(CYBB):c.751del (p.Trp251fs)	rs2146813723
NM_000397.4(CYBB):c.809G>A (p.Trp270Ter)	rs1929431693
NM_000397.4(CYBB):c.85del (p.Tyr29fs)	rs1064794086
NM_000397.4(CYBB):c.865del (p.Trp289fs)	rs1602182150
NM_000397.4(CYBB):c.868C>T (p.Arg290Ter)	rs886039337
NM_000397.4(CYBB):c.898-2A>C	rs1057518579
NM_000397.4(CYBB):c.907C>T (p.His303Tyr)	rs137854595
NM_000397.4(CYBB):c.937AAG[2] (p.Lys315del)	rs2146817067
NM_000397.4(CYBB):c.960del (p.Val321fs)	rs1556470775

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