ClinVar Miner

List of variants studied for Chronic granulomatous disease by Natera, Inc.

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.36A>G (p.Glu12=) rs8053867 0.99925
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) rs1049254 0.68722
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_000101.4(CYBA):c.203+8T>C rs4782393 0.44118
NM_000397.4(CYBB):c.1002G>A (p.Lys334=) rs2228117 0.05579
NM_000101.4(CYBA):c.237G>C (p.Leu79=) rs2228472 0.03976
NM_000101.4(CYBA):c.381T>C (p.Arg127=) rs12123 0.02582
NM_000101.4(CYBA):c.480G>A (p.Pro160=) rs72547284 0.02182
NM_000101.4(CYBA):c.59-4G>A rs199989792 0.00418
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00250
NM_000397.4(CYBB):c.686G>A (p.Arg229His) rs139670417 0.00106
NM_000397.4(CYBB):c.46-7T>C rs182039020 0.00070
NM_000101.4(CYBA):c.491G>A (p.Arg164His) rs904612575 0.00032
NM_000397.4(CYBB):c.6G>C (p.Gly2=) rs372462475 0.00029
NM_000101.4(CYBA):c.203+5G>A rs200590340 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_000101.4(CYBA):c.395C>T (p.Thr132Met) rs562308643 0.00016
NM_000397.4(CYBB):c.483+978G>A rs1031189017 0.00015
NM_000397.4(CYBB):c.675-4C>T rs782223666 0.00013
NM_000397.4(CYBB):c.969A>G (p.Gln323=) rs144764222 0.00012
NM_000101.4(CYBA):c.173A>G (p.Lys58Arg) rs200016139 0.00010
NM_000397.4(CYBB):c.142-12C>T rs13306298 0.00009
NM_000101.4(CYBA):c.293C>T (p.Ser98Leu) rs201755210 0.00008
NM_000397.4(CYBB):c.1587-6C>T rs369705608 0.00008
NM_000101.4(CYBA):c.-6G>C rs201703733 0.00007
NM_000101.4(CYBA):c.223G>A (p.Ala75Thr) rs13306293 0.00007
NM_000101.4(CYBA):c.505G>A (p.Glu169Lys) rs572654914 0.00007
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_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000101.4(CYBA):c.304G>A (p.Gly102Ser) rs1325655401 0.00006
NM_000101.4(CYBA):c.567G>A (p.Pro189=) rs1407529453 0.00006
NM_000397.4(CYBB):c.1203T>C (p.Tyr401=) rs782312337 0.00006
NM_000397.4(CYBB):c.1701G>A (p.Lys567=) rs140774378 0.00005
NM_000101.4(CYBA):c.134C>T (p.Ala45Val) rs776963412 0.00004
NM_000101.4(CYBA):c.274G>A (p.Val92Ile) rs202179890 0.00004
NM_000101.4(CYBA):c.418G>A (p.Glu140Lys) rs759771041 0.00004
NM_000101.4(CYBA):c.539C>T (p.Pro180Leu) rs1207976536 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_000101.4(CYBA):c.370-3C>T rs1031784335 0.00003
NM_000101.4(CYBA):c.483C>T (p.Ala161=) rs376631447 0.00003
NM_000101.4(CYBA):c.583G>A (p.Val195Met) rs778671805 0.00003
NM_000101.4(CYBA):c.69C>T (p.Thr23=) rs529905180 0.00003
NM_000101.4(CYBA):c.95G>A (p.Arg32His) rs368862873 0.00003
NM_000397.4(CYBB):c.1581C>T (p.His527=) rs781915934 0.00003
NM_000101.4(CYBA):c.243G>A (p.Gly81=) rs11547386 0.00002
NM_000101.4(CYBA):c.333C>T (p.Thr111=) rs978238415 0.00002
NM_000101.4(CYBA):c.370-5C>T rs778207143 0.00002
NM_000101.4(CYBA):c.415C>T (p.Arg139Trp) rs972548169 0.00002
NM_000101.4(CYBA):c.421C>T (p.Arg141Trp) rs776763356 0.00002
NM_000101.4(CYBA):c.422G>A (p.Arg141Gln) rs1242215580 0.00002
NM_000101.4(CYBA):c.425C>T (p.Pro142Leu) rs909600062 0.00002
NM_000101.4(CYBA):c.426G>A (p.Pro142=) rs771202971 0.00002
NM_000101.4(CYBA):c.452C>T (p.Pro151Leu) rs748716081 0.00002
NM_000101.4(CYBA):c.453G>A (p.Pro151=) rs113033082 0.00002
NM_000101.4(CYBA):c.527C>T (p.Ala176Val) rs772492771 0.00002
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.1427A>G (p.Tyr476Cys) rs782358158 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.562T>C (p.Leu188=) rs782410841 0.00002
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr) rs782096963 0.00002
NM_000397.4(CYBB):c.674+1081G>A rs1479015615 0.00002
NM_000101.4(CYBA):c.139G>A (p.Val47Met) rs886042280 0.00001
NM_000101.4(CYBA):c.199C>T (p.Arg67Cys) rs765388584 0.00001
NM_000101.4(CYBA):c.211A>C (p.Lys71Gln) rs768968198 0.00001
NM_000101.4(CYBA):c.273C>T (p.Ala91=) rs765593188 0.00001
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000101.4(CYBA):c.379C>A (p.Arg127Ser) rs1471892749 0.00001
NM_000101.4(CYBA):c.59-5C>T rs185846992 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000101.4(CYBA):c.94C>T (p.Arg32Cys) rs568138482 0.00001
NM_000397.4(CYBB):c.10T>A (p.Trp4Arg) rs782495755 0.00001
NM_000397.4(CYBB):c.126A>G (p.Thr42=) rs782767053 0.00001
NM_000397.4(CYBB):c.141+7A>T rs781828311 0.00001
NM_000397.4(CYBB):c.1462-7C>A rs371707791 0.00001
NM_000397.4(CYBB):c.1617T>C (p.Pro539=) rs187038548 0.00001
NM_000397.4(CYBB):c.30C>T (p.Leu10=) rs781966553 0.00001
NM_000397.4(CYBB):c.43A>G (p.Ile15Val) rs781809179 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.676C>T (p.Arg226Ter) rs137854592 0.00001
NM_000397.4(CYBB):c.698C>T (p.Ala233Val) rs782174347 0.00001
NM_000397.4(CYBB):c.8A>C (p.Asn3Thr) rs782014879 0.00001
NM_000101.4(CYBA):c.128+2T>C rs1191361764
NM_000101.4(CYBA):c.128+5C>G rs749332805
NM_000101.4(CYBA):c.128+5C>T rs749332805
NM_000101.4(CYBA):c.135G>A (p.Ala45=) rs372187837
NM_000101.4(CYBA):c.166C>G (p.Arg56Gly) rs767148046
NM_000101.4(CYBA):c.166C>T (p.Arg56Trp) rs767148046
NM_000101.4(CYBA):c.166dup (p.Arg56fs) rs1352931329
NM_000101.4(CYBA):c.204-2A>G rs113932941
NM_000101.4(CYBA):c.241G>C (p.Gly81Arg) rs754773481
NM_000101.4(CYBA):c.257A>G (p.Asn86Ser) rs1907301134
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter) rs779809359
NM_000101.4(CYBA):c.384C>T (p.Gly128=) rs72547285
NM_000101.4(CYBA):c.402C>G (p.Ile134Met) rs762995249
NM_000101.4(CYBA):c.422_427del (p.Arg141_Pro142del) rs1907161417
NM_000101.4(CYBA):c.468G>C (p.Pro156=) rs964575579
NM_000101.4(CYBA):c.475C>T (p.Pro159Ser) rs558222148
NM_000101.4(CYBA):c.486G>C (p.Glu162Asp) rs1907156886
NM_000101.4(CYBA):c.515C>G (p.Ala172Gly) rs1358936403
NM_000101.4(CYBA):c.516T>G (p.Ala172=) rs1907154868
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) rs760275837
NM_000101.4(CYBA):c.531G>A (p.Gly177=) rs769229409
NM_000101.4(CYBA):c.553G>A (p.Val185Ile) rs1158937022
NM_000101.4(CYBA):c.574G>C (p.Asp192His) rs777676283
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511
NM_000397.4(CYBB):c.1032C>G (p.Ser344=) rs782193225
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr) rs1929532655
NM_000397.4(CYBB):c.216T>C (p.Cys72=) rs782202693
NM_000397.4(CYBB):c.27G>T (p.Gly9=) rs979166608
NM_000397.4(CYBB):c.328C>T (p.Leu110Phe) rs1929209834
NM_000397.4(CYBB):c.336T>C (p.Ser112=) rs1447228298
NM_000397.4(CYBB):c.43A>T (p.Ile15Phe) rs781809179
NM_000397.4(CYBB):c.483+1G>T rs1131691828

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