ClinVar Miner

List of variants in gene CYBB reported by UniProtKB/Swiss-Prot

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_000397.4(CYBB):c.1012C>T (p.His338Tyr) rs151344484
NM_000397.4(CYBB):c.1016C>A (p.Pro339His) rs151344470
NM_000397.4(CYBB):c.1025T>A (p.Leu342Gln) rs151344495
NM_000397.4(CYBB):c.1031C>T (p.Ser344Phe) rs151344485
NM_000397.4(CYBB):c.1067G>C (p.Arg356Pro) rs151344471
NM_000397.4(CYBB):c.1166G>A (p.Gly389Glu) rs137854586
NM_000397.4(CYBB):c.1166G>C (p.Gly389Ala) rs137854586
NM_000397.4(CYBB):c.1214T>G (p.Met405Arg) rs151344472
NM_000397.4(CYBB):c.121T>G (p.Tyr41Asp) rs151344453
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg) rs151344473
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.1244C>T (p.Pro415Leu) rs137854585
NM_000397.4(CYBB):c.1259T>C (p.Leu420Pro) rs151344486
NM_000397.4(CYBB):c.1264T>C (p.Ser422Pro) rs151344475
NM_000397.4(CYBB):c.1357T>C (p.Trp453Arg) rs151344476
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly) rs137854593
NM_000397.4(CYBB):c.1514T>G (p.Leu505Arg) rs151344490
NM_000397.4(CYBB):c.1546T>C (p.Trp516Arg) rs151344487
NM_000397.4(CYBB):c.1548G>T (p.Trp516Cys) rs151344477
NM_000397.4(CYBB):c.1601T>A (p.Val534Asp) rs151344478
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg) rs151344454
NM_000397.4(CYBB):c.161G>T (p.Arg54Met) rs151344479
NM_000397.4(CYBB):c.162G>C (p.Arg54Ser) rs151344456
NM_000397.4(CYBB):c.1637T>C (p.Leu546Pro) rs151344492
NM_000397.4(CYBB):c.164C>A (p.Ala55Asp) rs151344480
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu) rs151344481
NM_000397.4(CYBB):c.175T>C (p.Cys59Arg) rs151344457
NM_000397.4(CYBB):c.177C>G (p.Cys59Trp) rs151344488
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.356A>G (p.His119Arg) rs151344458
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr) rs137854590
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.535G>A (p.Gly179Arg) rs151344491
NM_000397.4(CYBB):c.578C>T (p.Ser193Phe) rs151344493
NM_000397.4(CYBB):c.58G>C (p.Gly20Arg) rs151344455
NM_000397.4(CYBB):c.613T>A (p.Phe205Ile) rs151344496
NM_000397.4(CYBB):c.625C>T (p.His209Tyr) rs137854587
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.627T>A (p.His209Gln) rs151344459
NM_000397.4(CYBB):c.664C>A (p.His222Asn) rs151344460
NM_000397.4(CYBB):c.664C>T (p.His222Tyr) rs151344460
NM_000397.4(CYBB):c.665A>G (p.His222Arg) rs151344462
NM_000397.4(CYBB):c.667G>T (p.Gly223Ter) rs151344463
NM_000397.4(CYBB):c.668G>T (p.Gly223Val) rs151344464
NM_000397.4(CYBB):c.671C>G (p.Ala224Gly) rs151344483
NM_000397.4(CYBB):c.674A>T (p.Glu225Val) rs151344494
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_000397.4(CYBB):c.730T>C (p.Cys244Arg) rs151344465
NM_000397.4(CYBB):c.731G>A (p.Cys244Tyr) rs137854589
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.911C>G (p.Pro304Arg) rs137854596
NM_000397.4(CYBB):c.919A>C (p.Thr307Pro) rs151344489
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu) rs151344467
NM_000397.4(CYBB):c.973A>T (p.Ile325Phe) rs151344468
NM_000397.4(CYBB):c.997T>C (p.Ser333Pro) rs151344469

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