List of variants in gene CYBB reported by GeneDx

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: 96

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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.484-61A>G	rs112709054	0.00189
NM_000397.4(CYBB):c.1151+19T>G	rs782111012	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
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.1061A>G (p.His354Arg)
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter)	rs1602183244
NM_000397.4(CYBB):c.1151+2T>C
NM_000397.4(CYBB):c.1152-237dup	rs781798398
NM_000397.4(CYBB):c.1169C>T (p.Pro390Leu)	rs1131691836
NM_000397.4(CYBB):c.1223G>A (p.Gly408Glu)	rs151344474
NM_000397.4(CYBB):c.1231A>T (p.Ile411Phe)	rs1057521937
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.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.1462-56_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.1531T>C (p.Tyr511His)
NM_000397.4(CYBB):c.1573del (p.Ser525fs)	rs886041582
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg)	rs151344454
NM_000397.4(CYBB):c.1618del (p.Glu540fs)	rs1556473078
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.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.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.388del (p.Arg130fs)	rs886041193
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+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.54_79del (p.Trp18fs)	rs1556464542
NM_000397.4(CYBB):c.565_568del (p.Ile189fs)	rs886041312
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.626A>G (p.His209Arg)	rs151344482
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.779C>T (p.Pro260Leu)	rs2146813751
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.907C>T (p.His303Tyr)	rs137854595
NM_000397.4(CYBB):c.937AAG[2] (p.Lys315del)	rs2146817067
NM_000397.4(CYBB):c.960del (p.Val321fs)	rs1556470775
NM_000397.4(CYBB):c.988_989del (p.Pro330fs)	rs1602183161

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