ClinVar Miner

List of variants in gene CYBB studied for Granulomatous disease, chronic, X-linked

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Gene type:
ClinVar version:
Total variants: 552
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HGVS dbSNP gnomAD frequency
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.1002G>A (p.Lys334=) rs2228117 0.05579
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.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_000397.4(CYBB):c.686G>A (p.Arg229His) rs139670417 0.00106
NM_000397.4(CYBB):c.46-7T>C rs182039020 0.00070
NM_000397.4(CYBB):c.338-13C>T rs193922447 0.00064
NM_000397.4(CYBB):c.1159G>A (p.Val387Ile) rs145620748 0.00043
NM_000397.4(CYBB):c.6G>C (p.Gly2=) rs372462475 0.00029
NM_000397.4(CYBB):c.805-17T>A rs182092761 0.00026
NM_000397.4(CYBB):c.1689C>T (p.Phe563=) rs567830215 0.00023
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.483+978G>A rs1031189017 0.00015
NM_000397.4(CYBB):c.1685A>G (p.His562Arg) rs768055122 0.00013
NM_000397.4(CYBB):c.675-4C>T rs782223666 0.00013
NM_000397.4(CYBB):c.969A>G (p.Gln323=) rs144764222 0.00012
NM_000397.4(CYBB):c.1313A>G (p.Lys438Arg) rs1011161694 0.00010
NM_000397.4(CYBB):c.142-12C>T rs13306298 0.00009
NM_000397.4(CYBB):c.66C>T (p.Asn22=) rs193922450 0.00009
NM_000397.4(CYBB):c.1587-6C>T rs369705608 0.00008
NM_000397.4(CYBB):c.1676G>A (p.Arg559Gln) rs763640811 0.00008
NM_000397.4(CYBB):c.282G>T (p.Leu94=) rs372302110 0.00008
NM_000397.4(CYBB):c.1158G>A (p.Ala386=) rs374511592 0.00007
NM_000397.4(CYBB):c.1340A>T (p.Asp447Val) rs781944350 0.00007
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr) rs201356986 0.00007
NM_000397.4(CYBB):c.99T>C (p.Tyr33=) rs781937944 0.00007
NM_000397.4(CYBB):c.1203T>C (p.Tyr401=) rs782312337 0.00006
NM_000397.4(CYBB):c.153A>G (p.Ala51=) rs782748288 0.00006
NM_000397.4(CYBB):c.1103C>T (p.Ala368Val) rs781935760 0.00005
NM_000397.4(CYBB):c.1701G>A (p.Lys567=) rs140774378 0.00005
NM_000397.4(CYBB):c.697G>A (p.Ala233Thr) rs374931542 0.00005
NM_000397.4(CYBB):c.948G>T (p.Gly316=) rs139761069 0.00005
NM_000397.4(CYBB):c.1072G>A (p.Val358Ile) rs781992322 0.00004
NM_000397.4(CYBB):c.1377A>G (p.Gln459=) rs782413959 0.00004
NM_000397.4(CYBB):c.1413C>T (p.Ala471=) rs782094378 0.00004
NM_000397.4(CYBB):c.171A>G (p.Ala57=) rs781824754 0.00004
NM_000397.4(CYBB):c.348C>T (p.Thr116=) rs782735382 0.00004
NM_000397.4(CYBB):c.388C>A (p.Arg130=) rs180899069 0.00004
NM_000397.4(CYBB):c.1151+13T>C rs781868409 0.00003
NM_000397.4(CYBB):c.142-6T>C rs373947610 0.00003
NM_000397.4(CYBB):c.1581C>T (p.His527=) rs781915934 0.00003
NM_000397.4(CYBB):c.213C>T (p.Val71=) rs1347241869 0.00003
NM_000397.4(CYBB):c.636T>C (p.Phe212=) rs781984829 0.00003
NM_000397.4(CYBB):c.945G>A (p.Lys315=) rs369597264 0.00003
NM_000397.4(CYBB):c.1137G>A (p.Ala379=) rs1435916818 0.00002
NM_000397.4(CYBB):c.1249G>A (p.Ala417Thr) rs782094658 0.00002
NM_000397.4(CYBB):c.1300C>T (p.Leu434=) rs781891223 0.00002
NM_000397.4(CYBB):c.1395G>T (p.Met465Ile) rs1556471669 0.00002
NM_000397.4(CYBB):c.142-11G>A rs111759136 0.00002
NM_000397.4(CYBB):c.1427A>G (p.Tyr476Cys) rs782358158 0.00002
NM_000397.4(CYBB):c.1544A>G (p.Asn515Ser) rs782209880 0.00002
NM_000397.4(CYBB):c.159C>T (p.Ala53=) rs1483634031 0.00002
NM_000397.4(CYBB):c.1641T>C (p.Ser547=) rs771661205 0.00002
NM_000397.4(CYBB):c.1675C>T (p.Arg559Trp) rs760298475 0.00002
NM_000397.4(CYBB):c.452G>A (p.Ser151Asn) rs782500733 0.00002
NM_000397.4(CYBB):c.455A>G (p.Tyr152Cys) rs1569479293 0.00002
NM_000397.4(CYBB):c.483+7C>T rs200086928 0.00002
NM_000397.4(CYBB):c.562T>C (p.Leu188=) rs782410841 0.00002
NM_000397.4(CYBB):c.621C>T (p.Tyr207=) rs371655268 0.00002
NM_000397.4(CYBB):c.642C>T (p.Ile214=) rs782705892 0.00002
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr) rs782096963 0.00002
NM_000397.4(CYBB):c.822G>A (p.Val274=) rs1556469818 0.00002
NM_000397.4(CYBB):c.843C>A (p.Leu281=) rs1569479711 0.00002
NM_000397.4(CYBB):c.1062T>C (p.His354=) rs1221663438 0.00001
NM_000397.4(CYBB):c.1077G>A (p.Gly359=) rs1374154170 0.00001
NM_000397.4(CYBB):c.10T>A (p.Trp4Arg) rs782495755 0.00001
NM_000397.4(CYBB):c.1151+19T>G rs782111012 0.00001
NM_000397.4(CYBB):c.1152-7C>T rs1377275293 0.00001
NM_000397.4(CYBB):c.1170C>T (p.Pro390=) rs1382291401 0.00001
NM_000397.4(CYBB):c.1181C>T (p.Ala394Val) rs1159898408 0.00001
NM_000397.4(CYBB):c.1189G>T (p.Asp397Tyr) rs1556471167 0.00001
NM_000397.4(CYBB):c.1197C>T (p.Phe399=) rs782030975 0.00001
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.126A>G (p.Thr42=) rs782767053 0.00001
NM_000397.4(CYBB):c.1286A>G (p.Asn429Ser) rs781879934 0.00001
NM_000397.4(CYBB):c.1295C>T (p.Thr432Ile) rs782510554 0.00001
NM_000397.4(CYBB):c.1314+6T>A rs781915760 0.00001
NM_000397.4(CYBB):c.1315-8A>G rs1303123098 0.00001
NM_000397.4(CYBB):c.1317C>T (p.Ile439=) rs782552385 0.00001
NM_000397.4(CYBB):c.141+7A>T rs781828311 0.00001
NM_000397.4(CYBB):c.1461+11G>C rs1248891830 0.00001
NM_000397.4(CYBB):c.1462-4G>A rs781860569 0.00001
NM_000397.4(CYBB):c.1462-7C>A rs371707791 0.00001
NM_000397.4(CYBB):c.1462-9T>C rs1929628780 0.00001
NM_000397.4(CYBB):c.1503G>A (p.Val501=) rs187491185 0.00001
NM_000397.4(CYBB):c.1545C>T (p.Asn515=) rs782376162 0.00001
NM_000397.4(CYBB):c.1554T>G (p.Asn518Lys) rs1556472714 0.00001
NM_000397.4(CYBB):c.1557A>G (p.Glu519=) rs979304813 0.00001
NM_000397.4(CYBB):c.1573A>T (p.Ser525Cys) rs140677309 0.00001
NM_000397.4(CYBB):c.1586+17C>A rs782094175 0.00001
NM_000397.4(CYBB):c.1587-5A>G rs1569480397 0.00001
NM_000397.4(CYBB):c.160A>C (p.Arg54=) rs932660228 0.00001
NM_000397.4(CYBB):c.1617T>C (p.Pro539=) rs187038548 0.00001
NM_000397.4(CYBB):c.1662dup (p.Glu555Ter) rs1453468510 0.00001
NM_000397.4(CYBB):c.1677G>A (p.Arg559=) rs1000449858 0.00001
NM_000397.4(CYBB):c.218G>A (p.Arg73Gln) rs781887034 0.00001
NM_000397.4(CYBB):c.252+7G>A rs1556464897 0.00001
NM_000397.4(CYBB):c.253-7T>C rs372283009 0.00001
NM_000397.4(CYBB):c.297C>A (p.Thr99=) rs1556467101 0.00001
NM_000397.4(CYBB):c.315A>G (p.Ala105=) rs1194793672 0.00001
NM_000397.4(CYBB):c.327A>G (p.Ala109=) rs1556467125 0.00001
NM_000397.4(CYBB):c.333C>T (p.His111=) rs782280444 0.00001
NM_000397.4(CYBB):c.339G>A (p.Ala113=) rs1389196969 0.00001
NM_000397.4(CYBB):c.456T>C (p.Tyr152=) rs1556467700 0.00001
NM_000397.4(CYBB):c.467C>A (p.Ala156Asp) rs782596052 0.00001
NM_000397.4(CYBB):c.473A>G (p.Lys158Arg) rs782506348 0.00001
NM_000397.4(CYBB):c.542T>C (p.Val181Ala) rs1929299081 0.00001
NM_000397.4(CYBB):c.549G>A (p.Thr183=) rs1556468340 0.00001
NM_000397.4(CYBB):c.576C>T (p.Ser192=) rs1556468347 0.00001
NM_000397.4(CYBB):c.612C>T (p.Val204=) rs782317099 0.00001
NM_000397.4(CYBB):c.663C>A (p.Ile221=) rs782727740 0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) rs137854592 0.00001
NM_000397.4(CYBB):c.696C>T (p.Thr232=) rs782180981 0.00001
NM_000397.4(CYBB):c.698C>T (p.Ala233Val) rs782174347 0.00001
NM_000397.4(CYBB):c.736C>G (p.Gln246Glu) rs782756433 0.00001
NM_000397.4(CYBB):c.744C>T (p.Ile248=) rs190924506 0.00001
NM_000397.4(CYBB):c.772C>G (p.Pro258Ala) rs1384465552 0.00001
NM_000397.4(CYBB):c.780T>C (p.Pro260=) rs1929379347 0.00001
NM_000397.4(CYBB):c.804+9_804+12dup rs782807990 0.00001
NM_000397.4(CYBB):c.812A>C (p.Lys271Thr) rs1157274812 0.00001
NM_000397.4(CYBB):c.817A>G (p.Ile273Val) rs782610130 0.00001
NM_000397.4(CYBB):c.825T>A (p.Gly275=) rs1556469822 0.00001
NM_000397.4(CYBB):c.897+8T>C rs201609728 0.00001
NM_000397.4(CYBB):c.8A>C (p.Asn3Thr) rs782014879 0.00001
NM_000397.4(CYBB):c.924C>T (p.Ile308=) rs782150170 0.00001
NM_000397.4(CYBB):c.973A>G (p.Ile325Val) rs151344468 0.00001
NM_000397.4(CYBB):c.996G>T (p.Val332=) rs373027476 0.00001
NC_000023.10:g.(?_37639262)_(37660621_?)del
NC_000023.10:g.(?_37641330)_(37641446_?)del
NC_000023.10:g.(?_37658188)_(37670170_?)del
NC_000023.11:g.(?_37780009)_(37782203_?)del
NC_000023.11:g.(?_37780009)_(37810937_?)del
NC_000023.11:g.(?_37780009)_(37810937_?)dup
NC_000023.11:g.(?_37810771)_(37810937_?)del
NC_000023.11:g.37780011T>G
NG_009065.1:g.16964_16965insLINE1
NM_000397.4(CYBB):c.-65C>G rs2146801885
NM_000397.4(CYBB):c.1008G>A (p.Glu336=)
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.1020T>C (p.Phe340=)
NM_000397.4(CYBB):c.1024C>T (p.Leu342=)
NM_000397.4(CYBB):c.1029A>G (p.Thr343=) rs1556470803
NM_000397.4(CYBB):c.102T>C (p.Asp34=)
NM_000397.4(CYBB):c.1032C>G (p.Ser344=) rs782193225
NM_000397.4(CYBB):c.1032C>T (p.Ser344=) rs782193225
NM_000397.4(CYBB):c.1035C>T (p.Ala345=)
NM_000397.4(CYBB):c.1038del (p.Glu347fs)
NM_000397.4(CYBB):c.1044A>G (p.Glu348=) rs2146817166
NM_000397.4(CYBB):c.1059C>T (p.Ile353=) rs1602183207
NM_000397.4(CYBB):c.1060C>T (p.His354Tyr)
NM_000397.4(CYBB):c.1071C>T (p.Ile357=)
NM_000397.4(CYBB):c.1073T>C (p.Val358Ala)
NM_000397.4(CYBB):c.1075G>A (p.Gly359Arg)
NM_000397.4(CYBB):c.1078G>C (p.Asp360His)
NM_000397.4(CYBB):c.1081T>A (p.Trp361Arg)
NM_000397.4(CYBB):c.1082G>A (p.Trp361Ter) rs2146817207
NM_000397.4(CYBB):c.1085C>A (p.Thr362Lys) rs1569479953
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1089G>A (p.Glu363=)
NM_000397.4(CYBB):c.1090G>A (p.Gly364Arg) rs141756032
NM_000397.4(CYBB):c.1095G>C (p.Leu365=) rs1044242339
NM_000397.4(CYBB):c.1104T>C (p.Ala368=)
NM_000397.4(CYBB):c.1121del (p.Gln374fs)
NM_000397.4(CYBB):c.1122G>A (p.Gln374=) rs2146817247
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
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+14A>G
NM_000397.4(CYBB):c.1151+15C>A
NM_000397.4(CYBB):c.1151+17T>C
NM_000397.4(CYBB):c.1151+1G>A rs2146817275
NM_000397.4(CYBB):c.1151+6T>A
NM_000397.4(CYBB):c.1151+9_1151+10insTA
NM_000397.4(CYBB):c.1152-12del
NM_000397.4(CYBB):c.1152-16C>T
NM_000397.4(CYBB):c.1152-19C>A
NM_000397.4(CYBB):c.1152-19C>T
NM_000397.4(CYBB):c.1152-1G>A rs1929527785
NM_000397.4(CYBB):c.1152-20T>G
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg) rs1556471150
NM_000397.4(CYBB):c.1185T>C (p.Ser395=) rs2146817983
NM_000397.4(CYBB):c.118T>A (p.Phe40Ile)
NM_000397.4(CYBB):c.1194G>C (p.Val398=)
NM_000397.4(CYBB):c.11G>A (p.Trp4Ter)
NM_000397.4(CYBB):c.1207G>T (p.Val403Leu)
NM_000397.4(CYBB):c.1209G>T (p.Val403=)
NM_000397.4(CYBB):c.1221G>A (p.Val407=)
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg) rs151344473
NM_000397.4(CYBB):c.1234G>A (p.Gly412Arg)
NM_000397.4(CYBB):c.1236G>A (p.Gly412=)
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000397.4(CYBB):c.123C>G (p.Tyr41Ter) rs1928965653
NM_000397.4(CYBB):c.123C>T (p.Tyr41=) rs1928965653
NM_000397.4(CYBB):c.1241C>A (p.Thr414Lys)
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.1248C>T (p.Phe416=)
NM_000397.4(CYBB):c.1249G>T (p.Ala417Ser)
NM_000397.4(CYBB):c.125C>G (p.Thr42Arg)
NM_000397.4(CYBB):c.1260C>T (p.Leu420=) rs1186258856
NM_000397.4(CYBB):c.1266A>C (p.Ser422=)
NM_000397.4(CYBB):c.1266A>G (p.Ser422=)
NM_000397.4(CYBB):c.1271G>A (p.Trp424Ter) rs2146818057
NM_000397.4(CYBB):c.1290C>T (p.Asn430=) rs1031833103
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr) rs1929532655
NM_000397.4(CYBB):c.1296C>G (p.Thr432=) rs782808570
NM_000397.4(CYBB):c.1296C>T (p.Thr432=) rs782808570
NM_000397.4(CYBB):c.1297A>G (p.Asn433Asp)
NM_000397.4(CYBB):c.129A>G (p.Arg43=) rs2146803168
NM_000397.4(CYBB):c.12G>A (p.Trp4Ter) rs2146801959
NM_000397.4(CYBB):c.1308C>G (p.Leu436=)
NM_000397.4(CYBB):c.1313dup (p.Ile439fs) rs1602183698
NM_000397.4(CYBB):c.1314+12C>A
NM_000397.4(CYBB):c.1314+13A>C
NM_000397.4(CYBB):c.1314+16T>C
NM_000397.4(CYBB):c.1314+17A>G
NM_000397.4(CYBB):c.1314+19C>G rs34834015
NM_000397.4(CYBB):c.1314+19C>T rs34834015
NM_000397.4(CYBB):c.1314+1G>A rs2146818103
NM_000397.4(CYBB):c.1314+1G>C rs2146818103
NM_000397.4(CYBB):c.1314+20G>A rs34290745
NM_000397.4(CYBB):c.1314+20G>T
NM_000397.4(CYBB):c.1314+5G>A
NM_000397.4(CYBB):c.1314+7C>G rs1602183704
NM_000397.4(CYBB):c.1314+8C>G rs2146818112
NM_000397.4(CYBB):c.1315-10C>A
NM_000397.4(CYBB):c.1315-1G>A rs1556471620
NM_000397.4(CYBB):c.1315-1G>C rs1556471620
NM_000397.4(CYBB):c.1315-9del
NM_000397.4(CYBB):c.1317C>A (p.Ile439=) rs782552385
NM_000397.4(CYBB):c.1320C>G (p.Tyr440Ter) rs200129367
NM_000397.4(CYBB):c.1326C>A (p.Tyr442Ter) rs1602184316
NM_000397.4(CYBB):c.1328G>A (p.Trp443Ter)
NM_000397.4(CYBB):c.1336C>A (p.Arg446=)
NM_000397.4(CYBB):c.1336C>T (p.Arg446Trp)
NM_000397.4(CYBB):c.1338G>A (p.Arg446=)
NM_000397.4(CYBB):c.1344A>G (p.Thr448=) rs2146818957
NM_000397.4(CYBB):c.1365A>C (p.Ala455=) rs1602184360
NM_000397.4(CYBB):c.1369C>T (p.Leu457=) rs1602184363
NM_000397.4(CYBB):c.1370TGC[1] (p.Leu458del) rs1929562453
NM_000397.4(CYBB):c.1376A>G (p.Gln459Arg)
NM_000397.4(CYBB):c.1385A>C (p.Glu462Ala)
NM_000397.4(CYBB):c.1386G>A (p.Glu462=) rs1929562923
NM_000397.4(CYBB):c.1401A>G (p.Glu467=)
NM_000397.4(CYBB):c.1406A>C (p.Asn469Thr) rs1556471672
NM_000397.4(CYBB):c.1406A>G (p.Asn469Ser) rs1556471672
NM_000397.4(CYBB):c.141+14C>A rs2146803186
NM_000397.4(CYBB):c.141+18C>G
NM_000397.4(CYBB):c.141+1G>C rs1556464581
NM_000397.4(CYBB):c.141+1del rs1928965951
NM_000397.4(CYBB):c.141+20C>T
NM_000397.4(CYBB):c.1410T>C (p.Asn470=)
NM_000397.4(CYBB):c.1411G>A (p.Ala471Thr)
NM_000397.4(CYBB):c.1414_1420del (p.Gly472fs)
NM_000397.4(CYBB):c.1415del (p.Gly472fs) rs1929563459
NM_000397.4(CYBB):c.1416C>A (p.Gly472=)
NM_000397.4(CYBB):c.142-19C>T
NM_000397.4(CYBB):c.142-5T>C
NM_000397.4(CYBB):c.1424G>C (p.Ser475Thr) rs2146819056
NM_000397.4(CYBB):c.1441A>C (p.Thr481Pro)
NM_000397.4(CYBB):c.1461+18del
NM_000397.4(CYBB):c.1461+6G>T
NM_000397.4(CYBB):c.1461+8C>G
NM_000397.4(CYBB):c.1462-2A>G rs2146821097
NM_000397.4(CYBB):c.1462-6C>T rs2146821091
NM_000397.4(CYBB):c.1462-6del rs2146821090
NM_000397.4(CYBB):c.1462-7C>T rs371707791
NM_000397.4(CYBB):c.1466A>G (p.Asn489Ser) rs2146821107
NM_000397.4(CYBB):c.1466_1467del (p.Asn489fs) rs1569480333
NM_000397.4(CYBB):c.1469A>C (p.His490Pro) rs1929629245
NM_000397.4(CYBB):c.1481A>G (p.His494Arg) rs2146821126
NM_000397.4(CYBB):c.1497A>C (p.Lys499Asn) rs782201696
NM_000397.4(CYBB):c.1498G>T (p.Asp500Tyr)
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly) rs137854593
NM_000397.4(CYBB):c.1500T>G (p.Asp500Glu)
NM_000397.4(CYBB):c.1503G>T (p.Val501=)
NM_000397.4(CYBB):c.1509A>G (p.Thr503=) rs2146821167
NM_000397.4(CYBB):c.1519C>T (p.Gln507Ter) rs2146821175
NM_000397.4(CYBB):c.1531T>C (p.Tyr511His)
NM_000397.4(CYBB):c.1532A>G (p.Tyr511Cys)
NM_000397.4(CYBB):c.1537C>T (p.Arg513Trp)
NM_000397.4(CYBB):c.1539G>C (p.Arg513=)
NM_000397.4(CYBB):c.1546T>A (p.Trp516Arg)
NM_000397.4(CYBB):c.156G>C (p.Leu52=) rs2146804027
NM_000397.4(CYBB):c.1572A>C (p.Ala524=) rs2146821217
NM_000397.4(CYBB):c.1578A>G (p.Gln526=) rs782320283
NM_000397.4(CYBB):c.1579C>T (p.His527Tyr) rs1602185789
NM_000397.4(CYBB):c.1586+13T>C
NM_000397.4(CYBB):c.1586+14C>T
NM_000397.4(CYBB):c.1586+1G>A
NM_000397.4(CYBB):c.1586+8G>A rs1032242605
NM_000397.4(CYBB):c.1587-11T>C rs1929656936
NM_000397.4(CYBB):c.1587-12C>G
NM_000397.4(CYBB):c.1587-17T>C
NM_000397.4(CYBB):c.1587-1G>C rs2146822010
NM_000397.4(CYBB):c.1587-6_1606del rs2146821997
NM_000397.4(CYBB):c.1587-9T>C
NM_000397.4(CYBB):c.1590C>A (p.Thr530=)
NM_000397.4(CYBB):c.1597G>A (p.Gly533Arg)
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.1601T>A (p.Val534Asp) rs151344478
NM_000397.4(CYBB):c.1605C>T (p.Phe535=) rs2146822021
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg) rs151344454
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.1626G>A (p.Leu542=)
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.1635C>T (p.Thr545=) rs2146822037
NM_000397.4(CYBB):c.1637T>C (p.Leu546Pro) rs151344492
NM_000397.4(CYBB):c.1645C>G (p.Gln549Glu)
NM_000397.4(CYBB):c.1645C>T (p.Gln549Ter) rs1929658430
NM_000397.4(CYBB):c.1650C>T (p.Ser550=) rs1929658671
NM_000397.4(CYBB):c.1656C>T (p.Ser552=) rs2146822057
NM_000397.4(CYBB):c.1673del (p.Pro558fs) rs2146822068
NM_000397.4(CYBB):c.1677G>C (p.Arg559=)
NM_000397.4(CYBB):c.1681G>A (p.Val561Met) rs766756667
NM_000397.4(CYBB):c.1681G>C (p.Val561Leu) rs766756667
NM_000397.4(CYBB):c.1689del (p.Phe563fs) rs1602186299
NM_000397.4(CYBB):c.169G>T (p.Ala57Ser)
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.1713A>G (p.Ter571=)
NM_000397.4(CYBB):c.17T>C (p.Val6Ala)
NM_000397.4(CYBB):c.187A>C (p.Asn63His) rs1928999111
NM_000397.4(CYBB):c.190T>C (p.Cys64Arg) rs2146804063
NM_000397.4(CYBB):c.195G>T (p.Met65Ile)
NM_000397.4(CYBB):c.198G>A (p.Leu66=) rs2146804074
NM_000397.4(CYBB):c.198G>C (p.Leu66=) rs2146804074
NM_000397.4(CYBB):c.19A>C (p.Asn7His)
NM_000397.4(CYBB):c.1A>G (p.Met1Val) rs2146801935
NM_000397.4(CYBB):c.204C>A (p.Leu68=)
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.21T>C (p.Asn7=)
NM_000397.4(CYBB):c.228G>C (p.Leu76=)
NM_000397.4(CYBB):c.231C>G (p.Ser77=) rs2146804107
NM_000397.4(CYBB):c.231C>T (p.Ser77=)
NM_000397.4(CYBB):c.234C>T (p.Phe78=) rs2146804110
NM_000397.4(CYBB):c.243T>C (p.Gly81=)
NM_000397.4(CYBB):c.251C>T (p.Ala84Val) rs944314548
NM_000397.4(CYBB):c.252+11A>G
NM_000397.4(CYBB):c.252+14T>A
NM_000397.4(CYBB):c.252+18A>G rs2146804154
NM_000397.4(CYBB):c.252+5G>A rs1602175016
NM_000397.4(CYBB):c.252+5G>C rs1602175016
NM_000397.4(CYBB):c.252G>A (p.Ala84=) rs387906485
NM_000397.4(CYBB):c.252G>C (p.Ala84=)
NM_000397.4(CYBB):c.253-11T>A
NM_000397.4(CYBB):c.253-12C>T
NM_000397.4(CYBB):c.253-14C>T
NM_000397.4(CYBB):c.253-1G>C
NM_000397.4(CYBB):c.253-20C>A
NM_000397.4(CYBB):c.253-6C>A
NM_000397.4(CYBB):c.253-8A>G rs1064793093
NM_000397.4(CYBB):c.260C>T (p.Ser87Leu)
NM_000397.4(CYBB):c.267A>G (p.Arg89=)
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.279A>G (p.Gln93=)
NM_000397.4(CYBB):c.285C>T (p.Asp95=)
NM_000397.4(CYBB):c.288G>A (p.Arg96=) rs2146809290
NM_000397.4(CYBB):c.291T>G (p.Asn97Lys) rs2146809294
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.318G>A (p.Trp106Ter)
NM_000397.4(CYBB):c.322A>G (p.Ile108Val) rs1602178410
NM_000397.4(CYBB):c.325G>A (p.Ala109Thr)
NM_000397.4(CYBB):c.327A>C (p.Ala109=)
NM_000397.4(CYBB):c.336T>A (p.Ser112=) rs1447228298
NM_000397.4(CYBB):c.336T>C (p.Ser112=) rs1447228298
NM_000397.4(CYBB):c.337+13A>G
NM_000397.4(CYBB):c.337+15G>T
NM_000397.4(CYBB):c.337+18A>C
NM_000397.4(CYBB):c.337+8T>A rs2146809339
NM_000397.4(CYBB):c.338-10C>T rs2146810194
NM_000397.4(CYBB):c.338-15_338-13del
NM_000397.4(CYBB):c.338-16T>C
NM_000397.4(CYBB):c.338-18C>A
NM_000397.4(CYBB):c.338-18C>G rs2146810188
NM_000397.4(CYBB):c.338-7T>C rs2146810197
NM_000397.4(CYBB):c.338-8C>T rs2146810196
NM_000397.4(CYBB):c.345C>T (p.His115=)
NM_000397.4(CYBB):c.354A>C (p.Ala118=) rs2146810224
NM_000397.4(CYBB):c.355_356delinsAC (p.His119Thr) rs2146810227
NM_000397.4(CYBB):c.357T>C (p.His119=)
NM_000397.4(CYBB):c.372A>G (p.Glu124=)
NM_000397.4(CYBB):c.384T>C (p.Asn128=)
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.405T>A (p.Asp135Glu) rs1419331434
NM_000397.4(CYBB):c.414A>G (p.Ser138=) rs1602179038
NM_000397.4(CYBB):c.417A>G (p.Val139=) rs782544766
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro) rs2146810272
NM_000397.4(CYBB):c.446del (p.Asn149fs) rs1929244686
NM_000397.4(CYBB):c.46-14T>G
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.474G>A (p.Lys158=)
NM_000397.4(CYBB):c.47T>C (p.Leu16Pro) rs2146803094
NM_000397.4(CYBB):c.483+13T>A
NM_000397.4(CYBB):c.483+1G>A rs1131691828
NM_000397.4(CYBB):c.483+1G>T rs1131691828
NM_000397.4(CYBB):c.483+5G>A rs1929245964
NM_000397.4(CYBB):c.483+979G>T rs2146810847
NM_000397.4(CYBB):c.483G>A (p.Lys161=)
NM_000397.4(CYBB):c.484-11A>G
NM_000397.4(CYBB):c.484-14_484-13insAT
NM_000397.4(CYBB):c.484-15G>T
NM_000397.4(CYBB):c.484-9A>G
NM_000397.4(CYBB):c.498C>A (p.Gly166=) rs1035290700
NM_000397.4(CYBB):c.513G>T (p.Val171=)
NM_000397.4(CYBB):c.517C>T (p.Leu173=)
NM_000397.4(CYBB):c.519G>A (p.Leu173=) rs1556468329
NM_000397.4(CYBB):c.51T>C (p.Val17=) rs2146803096
NM_000397.4(CYBB):c.520T>C (p.Leu174=)
NM_000397.4(CYBB):c.525dup (p.Gly176fs)
NM_000397.4(CYBB):c.536G>A (p.Gly179Glu)
NM_000397.4(CYBB):c.543C>A (p.Val181=) rs2146811690
NM_000397.4(CYBB):c.549G>T (p.Thr183=)
NM_000397.4(CYBB):c.565del (p.Ile189fs) rs2146811730
NM_000397.4(CYBB):c.576C>G (p.Ser192=) rs1556468347
NM_000397.4(CYBB):c.58G>A (p.Gly20Arg) rs151344455
NM_000397.4(CYBB):c.596G>A (p.Arg199Lys) rs2146811773
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.60G>A (p.Gly20=)
NM_000397.4(CYBB):c.60G>C (p.Gly20=) rs782225178
NM_000397.4(CYBB):c.620A>G (p.Tyr207Cys)
NM_000397.4(CYBB):c.624A>G (p.Thr208=) rs2146811808
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.62del (p.Gly20_Leu21insTer)
NM_000397.4(CYBB):c.639G>A (p.Val213=) rs2146811820
NM_000397.4(CYBB):c.643TTC[1] (p.Phe216del) rs1929302971
NM_000397.4(CYBB):c.649A>C (p.Ile217Leu) rs1556468392
NM_000397.4(CYBB):c.650T>C (p.Ile217Thr)
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.66C>A (p.Asn22Lys) rs193922450
NM_000397.4(CYBB):c.66C>G (p.Asn22Lys)
NM_000397.4(CYBB):c.670G>A (p.Ala224Thr)
NM_000397.4(CYBB):c.670G>T (p.Ala224Ser)
NM_000397.4(CYBB):c.674+14T>C
NM_000397.4(CYBB):c.674+16C>T
NM_000397.4(CYBB):c.674+1G>A rs1929304640
NM_000397.4(CYBB):c.674+20A>G rs1929304780
NM_000397.4(CYBB):c.674+4_674+7del rs1057517730
NM_000397.4(CYBB):c.674+6T>C rs2146811888
NM_000397.4(CYBB):c.674+6T>G rs2146811888
NM_000397.4(CYBB):c.675-1157A>C
NM_000397.4(CYBB):c.675-1157A>G
NM_000397.4(CYBB):c.675-14C>T
NM_000397.4(CYBB):c.675-15dup
NM_000397.4(CYBB):c.675-2A>G rs2146813622
NM_000397.4(CYBB):c.675-3del
NM_000397.4(CYBB):c.675-5C>T rs2146813614
NM_000397.4(CYBB):c.67G>A (p.Val23Ile)
NM_000397.4(CYBB):c.684A>G (p.Val228=)
NM_000397.4(CYBB):c.693_694del (p.Gln231fs) rs1929376118
NM_000397.4(CYBB):c.6G>A (p.Gly2=)
NM_000397.4(CYBB):c.703_704del (p.Ser235fs)
NM_000397.4(CYBB):c.705T>C (p.Ser235=) rs2146813668
NM_000397.4(CYBB):c.714G>C (p.Val238=)
NM_000397.4(CYBB):c.721A>C (p.Ile241Leu)
NM_000397.4(CYBB):c.725C>G (p.Thr242Arg)
NM_000397.4(CYBB):c.726A>C (p.Thr242=)
NM_000397.4(CYBB):c.727G>C (p.Val243Leu)
NM_000397.4(CYBB):c.736C>T (p.Gln246Ter) rs782756433
NM_000397.4(CYBB):c.742dup (p.Ile248fs) rs886041194
NM_000397.4(CYBB):c.752G>A (p.Trp251Ter) rs2146813725
NM_000397.4(CYBB):c.755del (p.Gly252fs)
NM_000397.4(CYBB):c.75del (p.Phe26fs)
NM_000397.4(CYBB):c.766G>A (p.Glu256Lys)
NM_000397.4(CYBB):c.766del (p.Glu256fs)
NM_000397.4(CYBB):c.769T>C (p.Cys257Arg) rs2146813743
NM_000397.4(CYBB):c.771C>T (p.Cys257=)
NM_000397.4(CYBB):c.781C>T (p.Gln261Ter) rs1556469197
NM_000397.4(CYBB):c.785T>G (p.Phe262Cys) rs2146813757
NM_000397.4(CYBB):c.787G>T (p.Ala263Ser)
NM_000397.4(CYBB):c.797del (p.Pro266fs)
NM_000397.4(CYBB):c.802A>G (p.Met268Val) rs1929379839
NM_000397.4(CYBB):c.804+10A>G
NM_000397.4(CYBB):c.804+13C>A
NM_000397.4(CYBB):c.804+15T>A
NM_000397.4(CYBB):c.804+16T>C
NM_000397.4(CYBB):c.804+19T>A
NM_000397.4(CYBB):c.804+2T>C rs2146813774
NM_000397.4(CYBB):c.804+8C>A
NM_000397.4(CYBB):c.804+8C>T
NM_000397.4(CYBB):c.805-10_805-9del
NM_000397.4(CYBB):c.805-12C>T
NM_000397.4(CYBB):c.805-4A>G
NM_000397.4(CYBB):c.805A>G (p.Thr269Ala) rs1569479706
NM_000397.4(CYBB):c.807T>C (p.Thr269=) rs2146815171
NM_000397.4(CYBB):c.80_83del (p.Val27fs) rs1556464554
NM_000397.4(CYBB):c.813A>G (p.Lys271=)
NM_000397.4(CYBB):c.822G>T (p.Val274=) rs1556469818
NM_000397.4(CYBB):c.838T>C (p.Tyr280His)
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.841C>A (p.Leu281Ile)
NM_000397.4(CYBB):c.846T>C (p.Cys282=)
NM_000397.4(CYBB):c.853T>C (p.Leu285=)
NM_000397.4(CYBB):c.866G>A (p.Trp289Ter)
NM_000397.4(CYBB):c.867G>T (p.Trp289Cys) rs1929434069
NM_000397.4(CYBB):c.868C>T (p.Arg290Ter) rs886039337
NM_000397.4(CYBB):c.876A>G (p.Gln292=)
NM_000397.4(CYBB):c.885G>C (p.Val295=) rs2146815271
NM_000397.4(CYBB):c.886del (p.Val296fs)
NM_000397.4(CYBB):c.897+20T>C
NM_000397.4(CYBB):c.897+6G>A
NM_000397.4(CYBB):c.897+7A>C
NM_000397.4(CYBB):c.898-10T>A
NM_000397.4(CYBB):c.898-15T>A
NM_000397.4(CYBB):c.898-4A>G
NM_000397.4(CYBB):c.898-9A>G rs2146817022
NM_000397.4(CYBB):c.906T>C (p.Thr302=) rs2146817035
NM_000397.4(CYBB):c.906_909del (p.His303fs) rs1929497736
NM_000397.4(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer) rs387906486
NM_000397.4(CYBB):c.911C>G (p.Pro304Arg) rs137854596
NM_000397.4(CYBB):c.91C>T (p.Arg31Trp)
NM_000397.4(CYBB):c.921C>T (p.Thr307=)
NM_000397.4(CYBB):c.921_931del (p.Ile308fs) rs2146817045
NM_000397.4(CYBB):c.924C>G (p.Ile308Met) rs782150170
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000397.4(CYBB):c.93G>A (p.Arg31=) rs2146803145
NM_000397.4(CYBB):c.946G>C (p.Gly316Arg) rs1602183141
NM_000397.4(CYBB):c.953A>C (p.Lys318Thr)
NM_000397.4(CYBB):c.956T>C (p.Met319Thr)
NM_000397.4(CYBB):c.960del (p.Val321fs) rs1556470775
NM_000397.4(CYBB):c.964G>A (p.Gly322Arg)
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu) rs151344467
NM_000397.4(CYBB):c.972C>T (p.Tyr324=)
NM_000397.4(CYBB):c.975T>C (p.Ile325=)
NM_000397.4(CYBB):c.978del (p.Phe326fs) rs2146817094
NM_000397.4(CYBB):c.987C>A (p.Cys329Ter) rs1929499524
NM_000397.4(CYBB):c.987C>T (p.Cys329=) rs1929499524
NM_000397.4(CYBB):c.997T>C (p.Ser333Pro) rs151344469
NM_000397.4:c.484-262_484-261insLINE1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.