ClinVar Miner

List of variants in gene CYBA reported as uncertain significance for Chronic granulomatous disease

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.491G>A (p.Arg164His) rs904612575 0.00032
NM_000101.4(CYBA):c.203+5G>A rs200590340 0.00026
NM_000101.4(CYBA):c.395C>T (p.Thr132Met) rs562308643 0.00016
NM_000101.4(CYBA):c.173A>G (p.Lys58Arg) rs200016139 0.00010
NM_000101.4(CYBA):c.293C>T (p.Ser98Leu) rs201755210 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_000101.4(CYBA):c.304G>A (p.Gly102Ser) rs1325655401 0.00006
NM_000101.4(CYBA):c.567G>A (p.Pro189=) rs1407529453 0.00006
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_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_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.452C>T (p.Pro151Leu) rs748716081 0.00002
NM_000101.4(CYBA):c.527C>T (p.Ala176Val) rs772492771 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.379C>A (p.Arg127Ser) rs1471892749 0.00001
NM_000101.4(CYBA):c.59-5C>T rs185846992 0.00001
NM_000101.4(CYBA):c.94C>T (p.Arg32Cys) rs568138482 0.00001
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.241G>C (p.Gly81Arg) rs754773481
NM_000101.4(CYBA):c.257A>G (p.Asn86Ser) rs1907301134
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.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

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