ClinVar Miner

List of variants in gene CYBB studied for not provided

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Gene type:
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Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.141+90C>A rs4422908 0.32673
NM_000397.4(CYBB):c.484-1068T>C rs12014060 0.21793
NM_000397.4(CYBB):c.804+118A>G rs5964125 0.16667
NM_000397.4(CYBB):c.483+78C>T rs6610669 0.16506
NM_000397.4(CYBB):c.142-338G>T rs4595265 0.11896
NM_000397.4(CYBB):c.1002G>A (p.Lys334=) rs2228117 0.05579
NM_000397.4(CYBB):c.483+204T>C rs17146242 0.05290
NM_000397.4(CYBB):c.141+48C>G rs7059081 0.05245
NM_000397.4(CYBB):c.674+261A>C rs35959988 0.04423
NM_000397.4(CYBB):c.675-316T>A rs34052166 0.04407
NM_000397.4(CYBB):c.484-258C>T rs35851882 0.04211
NM_000397.4(CYBB):c.338-304A>G rs34097325 0.03518
NM_000397.4(CYBB):c.897+276G>T rs73632408 0.01090
NM_000397.4(CYBB):c.483+848G>A rs141740439 0.01059
NM_000397.4(CYBB):c.1461+196C>G rs34571491 0.00748
NM_000397.4(CYBB):c.675-296T>G rs34602937 0.00709
NM_000397.4(CYBB):c.1152-151C>T rs35724386 0.00412
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_000397.4(CYBB):c.654C>A (p.Gly218=) rs35080474 0.00303
NM_000397.4(CYBB):c.484-61A>G rs112709054 0.00189
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018
NM_000397.4(CYBB):c.855G>A (p.Leu285=) rs782293433 0.00018
NM_000397.4(CYBB):c.1249G>A (p.Ala417Thr) rs782094658 0.00002
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr) rs782096963 0.00002
NM_000397.4(CYBB):c.1152-7C>T rs1377275293 0.00001
NM_000397.4(CYBB):c.1333T>C (p.Cys445Arg) rs782424820 0.00001
NM_000397.4(CYBB):c.160A>C (p.Arg54=) rs932660228 0.00001
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
NC_000023.11:g.37780009_37780013del rs2146801880
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.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.1061A>G (p.His354Arg)
NM_000397.4(CYBB):c.1067G>C (p.Arg356Pro) rs151344471
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_000397.4(CYBB):c.1147C>T (p.Pro383Ser) rs1929503894
NM_000397.4(CYBB):c.1151+2T>C
NM_000397.4(CYBB):c.1152-237dup rs781798398
NM_000397.4(CYBB):c.1152-2A>G rs2146817932
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg) rs1556471150
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.1169C>T (p.Pro390Leu) rs1131691836
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.1226C>A (p.Ala409Glu)
NM_000397.4(CYBB):c.1231A>T (p.Ile411Phe) rs1057521937
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.1249G>T (p.Ala417Ser)
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.1272G>A (p.Trp424Ter) rs886041195
NM_000397.4(CYBB):c.1275C>G (p.Tyr425Ter) rs1602183679
NM_000397.4(CYBB):c.1314+19C>T rs34834015
NM_000397.4(CYBB):c.1315-1G>T
NM_000397.4(CYBB):c.1315-2A>G
NM_000397.4(CYBB):c.1357T>C (p.Trp453Arg) rs151344476
NM_000397.4(CYBB):c.1382_1396del (p.Leu461_Met465del)
NM_000397.4(CYBB):c.1390C>A (p.Gln464Lys)
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.145G>A (p.Ala49Thr) rs1556464851
NM_000397.4(CYBB):c.1462-1G>A rs1602185687
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.1499A>G (p.Asp500Gly) rs137854593
NM_000397.4(CYBB):c.1514T>G (p.Leu505Arg) rs151344490
NM_000397.4(CYBB):c.1531T>C (p.Tyr511His)
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.1571C>T (p.Ala524Val) rs1602185766
NM_000397.4(CYBB):c.1573del (p.Ser525fs) rs886041582
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.1618del (p.Glu540fs) rs1556473078
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.1658A>G (p.Asn553Ser)
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.1A>G (p.Met1Val) rs2146801935
NM_000397.4(CYBB):c.210dup (p.Val71fs) rs1556464882
NM_000397.4(CYBB):c.216T>C (p.Cys72=) rs782202693
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.253-8A>G rs1064793093
NM_000397.4(CYBB):c.268G>T (p.Val90Phe) rs1929208228
NM_000397.4(CYBB):c.271C>T (p.Arg91Ter) rs886041192
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.337+157T>A
NM_000397.4(CYBB):c.337+1G>T rs886039333
NM_000397.4(CYBB):c.338-1G>C rs2146810198
NM_000397.4(CYBB):c.343C>T (p.His115Tyr) rs1131691401
NM_000397.4(CYBB):c.356A>G (p.His119Arg) rs151344458
NM_000397.4(CYBB):c.388del (p.Arg130fs) rs886041193
NM_000397.4(CYBB):c.418del (p.Ala140fs)
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro) rs2146810272
NM_000397.4(CYBB):c.448G>T (p.Glu150Ter) rs886039334
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+100dup rs367874125
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.484-60TG[19] rs57325016
NM_000397.4(CYBB):c.484-60TG[20] rs57325016
NM_000397.4(CYBB):c.484-60TG[21] rs57325016
NM_000397.4(CYBB):c.484-60TG[24] rs57325016
NM_000397.4(CYBB):c.484-60TG[25] rs57325016
NM_000397.4(CYBB):c.484-844C>G rs3935493
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.536G>A (p.Gly179Glu)
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.578C>T (p.Ser193Phe) rs151344493
NM_000397.4(CYBB):c.58G>C (p.Gly20Arg) rs151344455
NM_000397.4(CYBB):c.595del (p.Arg199fs)
NM_000397.4(CYBB):c.599C>T (p.Ser200Phe) rs1556468360
NM_000397.4(CYBB):c.602_605dup (p.Phe202fs) rs1556468363
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.65A>G (p.Asn22Ser) rs2146803116
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.674+4_674+7del rs1057517730
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.6G>T (p.Gly2=)
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.742dup (p.Ile248fs) rs886041194
NM_000397.4(CYBB):c.751del (p.Trp251fs) rs2146813723
NM_000397.4(CYBB):c.779C>T (p.Pro260Leu) rs2146813751
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.897+239TG[19] rs58302662
NM_000397.4(CYBB):c.897+239TG[20] rs58302662
NM_000397.4(CYBB):c.897+239TG[22] rs58302662
NM_000397.4(CYBB):c.897+239TG[23] rs58302662
NM_000397.4(CYBB):c.897+239TG[24] rs58302662
NM_000397.4(CYBB):c.897+239TG[25] rs58302662
NM_000397.4(CYBB):c.898-2A>C rs1057518579
NM_000397.4(CYBB):c.904A>G (p.Thr302Ala) rs2146817029
NM_000397.4(CYBB):c.907C>A (p.His303Asn) rs137854595
NM_000397.4(CYBB):c.907C>T (p.His303Tyr) 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.937AAG[2] (p.Lys315del) rs2146817067
NM_000397.4(CYBB):c.960del (p.Val321fs) rs1556470775
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.988_989del (p.Pro330fs) rs1602183161
NM_000397.4(CYBB):c.997T>C (p.Ser333Pro) rs151344469

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