ClinVar Miner

List of variants reported as likely benign for Granulomatous disease, chronic, X-linked by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.483+978G>A rs1031189017 0.00015
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.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.1496A>C (p.Lys499Thr) rs201356986 0.00007
NM_000397.4(CYBB):c.153A>G (p.Ala51=) rs782748288 0.00006
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.388C>A (p.Arg130=) rs180899069 0.00004
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.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.452G>A (p.Ser151Asn) rs782500733 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.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.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.1197C>T (p.Phe399=) rs782030975 0.00001
NM_000397.4(CYBB):c.126A>G (p.Thr42=) rs782767053 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.1677G>A (p.Arg559=) rs1000449858 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.43A>G (p.Ile15Val) rs781809179 0.00001
NM_000397.4(CYBB):c.45+18A>G rs781908342 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.576C>T (p.Ser192=) rs1556468347 0.00001
NM_000397.4(CYBB):c.612C>T (p.Val204=) rs782317099 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.780T>C (p.Pro260=) rs1929379347 0.00001
NM_000397.4(CYBB):c.804+9_804+12dup rs782807990 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
NM_000397.4(CYBB):c.1008G>A (p.Glu336=)
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>T (p.Ser344=) rs782193225
NM_000397.4(CYBB):c.1035C>T (p.Ala345=)
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.1089G>A (p.Glu363=)
NM_000397.4(CYBB):c.1095G>C (p.Leu365=) rs1044242339
NM_000397.4(CYBB):c.1104T>C (p.Ala368=)
NM_000397.4(CYBB):c.1122G>A (p.Gln374=) rs2146817247
NM_000397.4(CYBB):c.1151+14A>G
NM_000397.4(CYBB):c.1151+17T>C
NM_000397.4(CYBB):c.1151+9_1151+10insTA
NM_000397.4(CYBB):c.1152-12del
NM_000397.4(CYBB):c.1152-19C>A
NM_000397.4(CYBB):c.1152-19C>T
NM_000397.4(CYBB):c.1152-20T>G
NM_000397.4(CYBB):c.1185T>C (p.Ser395=) rs2146817983
NM_000397.4(CYBB):c.1194G>C (p.Val398=)
NM_000397.4(CYBB):c.1209G>T (p.Val403=)
NM_000397.4(CYBB):c.1221G>A (p.Val407=)
NM_000397.4(CYBB):c.1236G>A (p.Gly412=)
NM_000397.4(CYBB):c.123C>T (p.Tyr41=) rs1928965653
NM_000397.4(CYBB):c.1248C>T (p.Phe416=)
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.1290C>T (p.Asn430=) rs1031833103
NM_000397.4(CYBB):c.1296C>G (p.Thr432=) rs782808570
NM_000397.4(CYBB):c.129A>G (p.Arg43=) rs2146803168
NM_000397.4(CYBB):c.1308C>G (p.Leu436=)
NM_000397.4(CYBB):c.1314+12C>A
NM_000397.4(CYBB):c.1314+13A>C
NM_000397.4(CYBB):c.1314+17A>G
NM_000397.4(CYBB):c.1314+19C>G rs34834015
NM_000397.4(CYBB):c.1314+20G>T
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.1317C>A (p.Ile439=) rs782552385
NM_000397.4(CYBB):c.1336C>A (p.Arg446=)
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.1386G>A (p.Glu462=) rs1929562923
NM_000397.4(CYBB):c.1401A>G (p.Glu467=)
NM_000397.4(CYBB):c.141+14C>A rs2146803186
NM_000397.4(CYBB):c.141+18C>G
NM_000397.4(CYBB):c.141+20C>T
NM_000397.4(CYBB):c.1410T>C (p.Asn470=)
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.1461+18del
NM_000397.4(CYBB):c.1461+8C>G
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.1503G>T (p.Val501=)
NM_000397.4(CYBB):c.1509A>G (p.Thr503=) rs2146821167
NM_000397.4(CYBB):c.1539G>C (p.Arg513=)
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.1586+13T>C
NM_000397.4(CYBB):c.1586+14C>T
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.1587-9T>C
NM_000397.4(CYBB):c.1590C>A (p.Thr530=)
NM_000397.4(CYBB):c.1605C>T (p.Phe535=) rs2146822021
NM_000397.4(CYBB):c.1626G>A (p.Leu542=)
NM_000397.4(CYBB):c.1635C>T (p.Thr545=) rs2146822037
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.1677G>C (p.Arg559=)
NM_000397.4(CYBB):c.1713A>G (p.Ter571=)
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.204C>A (p.Leu68=)
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.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.253-11T>A
NM_000397.4(CYBB):c.253-12C>T
NM_000397.4(CYBB):c.253-14C>T
NM_000397.4(CYBB):c.253-20C>A
NM_000397.4(CYBB):c.253-6C>A
NM_000397.4(CYBB):c.267A>G (p.Arg89=)
NM_000397.4(CYBB):c.279A>G (p.Gln93=)
NM_000397.4(CYBB):c.27G>A (p.Gly9=)
NM_000397.4(CYBB):c.27G>T (p.Gly9=) rs979166608
NM_000397.4(CYBB):c.285C>T (p.Asp95=)
NM_000397.4(CYBB):c.288G>A (p.Arg96=) rs2146809290
NM_000397.4(CYBB):c.30C>A (p.Leu10=) rs781966553
NM_000397.4(CYBB):c.327A>C (p.Ala109=)
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.33C>T (p.Ser11=)
NM_000397.4(CYBB):c.345C>T (p.His115=)
NM_000397.4(CYBB):c.354A>C (p.Ala118=) rs2146810224
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.39T>C (p.Phe13=)
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.42C>A (p.Val14=) rs1928916724
NM_000397.4(CYBB):c.45+20A>G
NM_000397.4(CYBB):c.45+8C>T
NM_000397.4(CYBB):c.45+9C>G rs2146802012
NM_000397.4(CYBB):c.474G>A (p.Lys158=)
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.543C>A (p.Val181=) rs2146811690
NM_000397.4(CYBB):c.549G>T (p.Thr183=)
NM_000397.4(CYBB):c.576C>G (p.Ser192=) rs1556468347
NM_000397.4(CYBB):c.596G>A (p.Arg199Lys) rs2146811773
NM_000397.4(CYBB):c.60G>C (p.Gly20=) rs782225178
NM_000397.4(CYBB):c.624A>G (p.Thr208=) rs2146811808
NM_000397.4(CYBB):c.639G>A (p.Val213=) rs2146811820
NM_000397.4(CYBB):c.670G>A (p.Ala224Thr)
NM_000397.4(CYBB):c.674+14T>C
NM_000397.4(CYBB):c.674+16C>T
NM_000397.4(CYBB):c.674+20A>G rs1929304780
NM_000397.4(CYBB):c.675-1157A>C
NM_000397.4(CYBB):c.675-14C>T
NM_000397.4(CYBB):c.675-15dup
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.6G>A (p.Gly2=)
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.726A>C (p.Thr242=)
NM_000397.4(CYBB):c.727G>C (p.Val243Leu)
NM_000397.4(CYBB):c.771C>T (p.Cys257=)
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+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.807T>C (p.Thr269=) rs2146815171
NM_000397.4(CYBB):c.813A>G (p.Lys271=)
NM_000397.4(CYBB):c.822G>T (p.Val274=) rs1556469818
NM_000397.4(CYBB):c.846T>C (p.Cys282=)
NM_000397.4(CYBB):c.853T>C (p.Leu285=)
NM_000397.4(CYBB):c.876A>G (p.Gln292=)
NM_000397.4(CYBB):c.885G>C (p.Val295=) rs2146815271
NM_000397.4(CYBB):c.897+20T>C
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.91C>T (p.Arg31Trp)
NM_000397.4(CYBB):c.921C>T (p.Thr307=)
NM_000397.4(CYBB):c.93G>A (p.Arg31=) rs2146803145
NM_000397.4(CYBB):c.953A>C (p.Lys318Thr)
NM_000397.4(CYBB):c.972C>T (p.Tyr324=)
NM_000397.4(CYBB):c.975T>C (p.Ile325=)
NM_000397.4(CYBB):c.987C>T (p.Cys329=) rs1929499524

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