ClinVar Miner

List of variants in gene CYBB reported as likely pathogenic

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.1223G>C (p.Gly408Ala) rs151344474 0.00001
NM_000397.4(CYBB):c.1244C>G (p.Pro415Arg) rs137854585 0.00001
NM_000397.4(CYBB):c.1333T>C (p.Cys445Arg) rs782424820 0.00001
NC_000023.10:g.(?_37641330)_(37641446_?)del
NC_000023.11:g.(?_37810771)_(37810937_?)del
NC_000023.11:g.37780009_37780013del rs2146801880
NM_000397.4(CYBB):c.1061A>G (p.His354Arg)
NM_000397.4(CYBB):c.1081T>A (p.Trp361Arg)
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.1152-1G>A rs1929527785
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg) rs1556471150
NM_000397.4(CYBB):c.1169C>T (p.Pro390Leu) rs1131691836
NM_000397.4(CYBB):c.1226C>A (p.Ala409Glu)
NM_000397.4(CYBB):c.1231A>T (p.Ile411Phe) rs1057521937
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000397.4(CYBB):c.1315-1G>T
NM_000397.4(CYBB):c.1315-2A>G
NM_000397.4(CYBB):c.1385A>C (p.Glu462Ala)
NM_000397.4(CYBB):c.1462-1G>A rs1602185687
NM_000397.4(CYBB):c.1571C>T (p.Ala524Val) rs1602185766
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.160A>G (p.Arg54Gly)
NM_000397.4(CYBB):c.1610G>T (p.Cys537Phe)
NM_000397.4(CYBB):c.1618del (p.Glu540fs) rs1556473078
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.169G>T (p.Ala57Ser)
NM_000397.4(CYBB):c.252+5G>C rs1602175016
NM_000397.4(CYBB):c.253-8A>G rs1064793093
NM_000397.4(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000397.4(CYBB):c.343C>T (p.His115Tyr) rs1131691401
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro) rs2146810272
NM_000397.4(CYBB):c.483+5G>A rs1929245964
NM_000397.4(CYBB):c.483G>A (p.Lys161=)
NM_000397.4(CYBB):c.595del (p.Arg199fs)
NM_000397.4(CYBB):c.599C>T (p.Ser200Phe) rs1556468360
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.66C>A (p.Asn22Lys) rs193922450
NM_000397.4(CYBB):c.769T>C (p.Cys257Arg) rs2146813743
NM_000397.4(CYBB):c.785T>G (p.Phe262Cys) rs2146813757
NM_000397.4(CYBB):c.988_989del (p.Pro330fs) rs1602183161

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