ClinVar Miner

List of variants in gene CYBB reported as pathogenic by Invitae

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) rs137854592 0.00001
NC_000023.10:g.(?_37639262)_(37660621_?)del
NC_000023.10:g.(?_37658188)_(37670170_?)del
NC_000023.11:g.(?_37780009)_(37782203_?)del
NC_000023.11:g.(?_37780009)_(37810937_?)del
NM_000397.4(CYBB):c.1010G>A (p.Trp337Ter) rs1929500338
NM_000397.4(CYBB):c.1011G>A (p.Trp337Ter) rs1569479943
NM_000397.4(CYBB):c.1012C>T (p.His338Tyr) rs151344484
NM_000397.4(CYBB):c.1014C>G (p.His338Gln)
NM_000397.4(CYBB):c.1016C>A (p.Pro339His) rs151344470
NM_000397.4(CYBB):c.1038del (p.Glu347fs)
NM_000397.4(CYBB):c.1082G>A (p.Trp361Ter) rs2146817207
NM_000397.4(CYBB):c.1121del (p.Gln374fs)
NM_000397.4(CYBB):c.1139_1140delinsAA (p.Trp380Ter) rs2146817260
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.1150_1151+2del
NM_000397.4(CYBB):c.1151+1G>A rs2146817275
NM_000397.4(CYBB):c.11G>A (p.Trp4Ter)
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg) rs151344473
NM_000397.4(CYBB):c.1234G>A (p.Gly412Arg)
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000397.4(CYBB):c.123C>G (p.Tyr41Ter) rs1928965653
NM_000397.4(CYBB):c.1244C>A (p.Pro415His) rs137854585
NM_000397.4(CYBB):c.1244C>T (p.Pro415Leu) rs137854585
NM_000397.4(CYBB):c.1245del (p.Phe416fs) rs1929531349
NM_000397.4(CYBB):c.12G>A (p.Trp4Ter) rs2146801959
NM_000397.4(CYBB):c.1313dup (p.Ile439fs) rs1602183698
NM_000397.4(CYBB):c.1314+1G>A rs2146818103
NM_000397.4(CYBB):c.1315-1G>A rs1556471620
NM_000397.4(CYBB):c.1315-1G>C rs1556471620
NM_000397.4(CYBB):c.1320C>G (p.Tyr440Ter) rs200129367
NM_000397.4(CYBB):c.1328G>A (p.Trp443Ter)
NM_000397.4(CYBB):c.141+1G>C rs1556464581
NM_000397.4(CYBB):c.141+1del rs1928965951
NM_000397.4(CYBB):c.1414_1420del (p.Gly472fs)
NM_000397.4(CYBB):c.1466_1467del (p.Asn489fs) rs1569480333
NM_000397.4(CYBB):c.1498G>T (p.Asp500Tyr)
NM_000397.4(CYBB):c.1500T>G (p.Asp500Glu)
NM_000397.4(CYBB):c.1519C>T (p.Gln507Ter) rs2146821175
NM_000397.4(CYBB):c.1546T>A (p.Trp516Arg)
NM_000397.4(CYBB):c.1586+1G>A
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg) rs151344454
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.1645C>T (p.Gln549Ter) rs1929658430
NM_000397.4(CYBB):c.1673del (p.Pro558fs) rs2146822068
NM_000397.4(CYBB):c.1689del (p.Phe563fs) rs1602186299
NM_000397.4(CYBB):c.1702G>A (p.Glu568Lys) rs1556473119
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu) rs151344481
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.271C>T (p.Arg91Ter) rs886041192
NM_000397.4(CYBB):c.318G>A (p.Trp106Ter)
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter) rs180899069
NM_000397.4(CYBB):c.389G>C (p.Arg130Pro) rs193922448
NM_000397.4(CYBB):c.3G>A (p.Met1Ile) rs2146801939
NM_000397.4(CYBB):c.446del (p.Asn149fs) rs1929244686
NM_000397.4(CYBB):c.46-2A>T rs2146803092
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr) rs137854590
NM_000397.4(CYBB):c.469C>T (p.Arg157Ter) rs886039335
NM_000397.4(CYBB):c.483+1G>A rs1131691828
NM_000397.4(CYBB):c.525dup (p.Gly176fs)
NM_000397.4(CYBB):c.565del (p.Ile189fs) rs2146811730
NM_000397.4(CYBB):c.58G>A (p.Gly20Arg) rs151344455
NM_000397.4(CYBB):c.603C>G (p.Tyr201Ter) rs2146811786
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000397.4(CYBB):c.643TTC[1] (p.Phe216del) rs1929302971
NM_000397.4(CYBB):c.665A>G (p.His222Arg) rs151344462
NM_000397.4(CYBB):c.666T>A (p.His222Gln) rs2146811863
NM_000397.4(CYBB):c.674+1G>A rs1929304640
NM_000397.4(CYBB):c.675-2A>G rs2146813622
NM_000397.4(CYBB):c.693_694del (p.Gln231fs) rs1929376118
NM_000397.4(CYBB):c.703_704del (p.Ser235fs)
NM_000397.4(CYBB):c.736C>T (p.Gln246Ter) rs782756433
NM_000397.4(CYBB):c.742dup (p.Ile248fs) rs886041194
NM_000397.4(CYBB):c.755del (p.Gly252fs)
NM_000397.4(CYBB):c.75del (p.Phe26fs)
NM_000397.4(CYBB):c.781C>T (p.Gln261Ter) rs1556469197
NM_000397.4(CYBB):c.80_83del (p.Val27fs) rs1556464554
NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter) rs1929432929
NM_000397.4(CYBB):c.840T>G (p.Tyr280Ter) rs1929432929
NM_000397.4(CYBB):c.866G>A (p.Trp289Ter)
NM_000397.4(CYBB):c.868C>T (p.Arg290Ter) rs886039337
NM_000397.4(CYBB):c.886del (p.Val296fs)
NM_000397.4(CYBB):c.906_909del (p.His303fs) rs1929497736
NM_000397.4(CYBB):c.921_931del (p.Ile308fs) rs2146817045
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000397.4(CYBB):c.960del (p.Val321fs) rs1556470775
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu) rs151344467
NM_000397.4(CYBB):c.978del (p.Phe326fs) rs2146817094
NM_000397.4(CYBB):c.987C>A (p.Cys329Ter) rs1929499524

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