ClinVar Miner

List of variants in gene CYBA reported as uncertain significance for phagocytic cell dysfunction

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00233
NM_000101.4(CYBA):c.491G>A (p.Arg164His) rs904612575 0.00032
NM_000101.4(CYBA):c.203+5G>A rs200590340 0.00024
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.301G>A (p.Ala101Thr) rs779140893 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.576C>T (p.Asp192=) rs758314115 0.00006
NM_000101.4(CYBA):c.524C>T (p.Ala175Val) rs759482101 0.00005
NM_000101.4(CYBA):c.567G>A (p.Pro189=) rs1407529453 0.00005
NM_000101.4(CYBA):c.583G>A (p.Val195Met) rs778671805 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.479C>T (p.Pro160Leu) rs1247886457 0.00004
NM_000101.4(CYBA):c.539C>T (p.Pro180Leu) rs1207976536 0.00004
NM_000101.4(CYBA):c.69C>T (p.Thr23=) rs529905180 0.00004
NM_000101.4(CYBA):c.167G>A (p.Arg56Gln) rs756890606 0.00003
NM_000101.4(CYBA):c.355G>A (p.Gly119Ser) rs1338295833 0.00003
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.528G>A (p.Ala176=) rs762277251 0.00003
NM_000101.4(CYBA):c.79G>A (p.Val27Met) rs753373754 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.421C>T (p.Arg141Trp) rs776763356 0.00002
NM_000101.4(CYBA):c.452C>T (p.Pro151Leu) rs748716081 0.00002
NM_000101.4(CYBA):c.488C>A (p.Ala163Asp) rs756973782 0.00002
NM_000101.4(CYBA):c.527C>T (p.Ala176Val) rs772492771 0.00002
NM_000101.4(CYBA):c.135G>A (p.Ala45=) rs372187837 0.00001
NM_000101.4(CYBA):c.139G>A (p.Val47Met) rs886042280 0.00001
NM_000101.4(CYBA):c.163C>T (p.Pro55Ser) rs755658845 0.00001
NM_000101.4(CYBA):c.169G>A (p.Gly57Arg) rs1237822473 0.00001
NM_000101.4(CYBA):c.184G>A (p.Gly62Ser) rs1236991685 0.00001
NM_000101.4(CYBA):c.193A>G (p.Met65Val) rs1567609300 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.229G>A (p.Val77Met) rs1410568051 0.00001
NM_000101.4(CYBA):c.254G>C (p.Arg85Thr) rs1159482030 0.00001
NM_000101.4(CYBA):c.273C>T (p.Ala91=) rs765593188 0.00001
NM_000101.4(CYBA):c.283C>G (p.Leu95Val) rs372739512 0.00001
NM_000101.4(CYBA):c.350C>A (p.Ala117Glu) rs868210009 0.00001
NM_000101.4(CYBA):c.350C>T (p.Ala117Val) rs868210009 0.00001
NM_000101.4(CYBA):c.353G>A (p.Ser118Asn) rs1291332444 0.00001
NM_000101.4(CYBA):c.379C>A (p.Arg127Ser) rs1471892749 0.00001
NM_000101.4(CYBA):c.398C>G (p.Pro133Arg) rs1251186618 0.00001
NM_000101.4(CYBA):c.415C>T (p.Arg139Trp) rs972548169 0.00001
NM_000101.4(CYBA):c.41C>T (p.Ala14Val) rs750353019 0.00001
NM_000101.4(CYBA):c.422G>A (p.Arg141Gln) rs1242215580 0.00001
NM_000101.4(CYBA):c.425C>T (p.Pro142Leu) rs909600062 0.00001
NM_000101.4(CYBA):c.433G>A (p.Gly145Arg) rs576565258 0.00001
NM_000101.4(CYBA):c.467C>T (p.Pro156Leu) rs104894515 0.00001
NM_000101.4(CYBA):c.472C>T (p.Arg158Trp) rs1008699438 0.00001
NM_000101.4(CYBA):c.548C>G (p.Pro183Arg) rs939664876 0.00001
NM_000101.4(CYBA):c.577G>A (p.Glu193Lys) rs747994433 0.00001
NM_000101.4(CYBA):c.59-5C>T rs185846992 0.00001
NM_000101.4(CYBA):c.61C>T (p.Leu21Phe) rs1289829806 0.00001
NM_000101.4(CYBA):c.94C>T (p.Arg32Cys) rs568138482 0.00001
NM_000101.4(CYBA):c.115G>A (p.Gly39Ser) rs1907352298
NM_000101.4(CYBA):c.116G>C (p.Gly39Ala) rs774384826
NM_000101.4(CYBA):c.121T>A (p.Tyr41Asn) rs768595936
NM_000101.4(CYBA):c.128+5C>G rs749332805
NM_000101.4(CYBA):c.128+5C>T rs749332805
NM_000101.4(CYBA):c.129-17T>G
NM_000101.4(CYBA):c.132G>A (p.Val44=) rs2142876235
NM_000101.4(CYBA):c.136G>A (p.Gly46Ser) rs1373087091
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.167G>T (p.Arg56Leu) rs756890606
NM_000101.4(CYBA):c.179A>G (p.Lys60Arg) rs11547387
NM_000101.4(CYBA):c.1A>T (p.Met1Leu) rs775868940
NM_000101.4(CYBA):c.240C>A (p.Phe80Leu) rs373948664
NM_000101.4(CYBA):c.241G>A (p.Gly81Arg) rs754773481
NM_000101.4(CYBA):c.241G>C (p.Gly81Arg) rs754773481
NM_000101.4(CYBA):c.251C>T (p.Thr84Ile)
NM_000101.4(CYBA):c.257A>G (p.Asn86Ser) rs1907301134
NM_000101.4(CYBA):c.281A>C (p.His94Pro) rs104894510
NM_000101.4(CYBA):c.288-3del rs777808025
NM_000101.4(CYBA):c.288G>T (p.Leu96=) rs200876803
NM_000101.4(CYBA):c.314T>G (p.Leu105Arg) rs2142873902
NM_000101.4(CYBA):c.335C>T (p.Ala112Val) rs1164107269
NM_000101.4(CYBA):c.34G>A (p.Glu12Lys) rs1260396493
NM_000101.4(CYBA):c.365T>C (p.Leu122Pro) rs2507527751
NM_000101.4(CYBA):c.369+3G>C rs1907267910
NM_000101.4(CYBA):c.36A>C (p.Glu12Asp) rs8053867
NM_000101.4(CYBA):c.370-11G>A rs1022796292
NM_000101.4(CYBA):c.379C>T (p.Arg127Cys) rs1471892749
NM_000101.4(CYBA):c.380G>A (p.Arg127His) rs755779683
NM_000101.4(CYBA):c.380G>T (p.Arg127Leu) rs755779683
NM_000101.4(CYBA):c.384C>T (p.Gly128=) rs72547285
NM_000101.4(CYBA):c.386_433dup (p.Glu129_Ile144dup) rs1555540977
NM_000101.4(CYBA):c.401T>A (p.Ile134Asn) rs2142869976
NM_000101.4(CYBA):c.402C>G (p.Ile134Met) rs762995249
NM_000101.4(CYBA):c.403G>C (p.Glu135Gln) rs114610092
NM_000101.4(CYBA):c.415C>G (p.Arg139Gly) rs972548169
NM_000101.4(CYBA):c.422_427del (p.Arg141_Pro142del) rs1907161417
NM_000101.4(CYBA):c.425C>G (p.Pro142Arg) rs909600062
NM_000101.4(CYBA):c.428A>G (p.Gln143Arg)
NM_000101.4(CYBA):c.448C>G (p.Gln150Glu) rs1907160050
NM_000101.4(CYBA):c.467_479del (p.Pro156fs) rs2142869764
NM_000101.4(CYBA):c.470C>T (p.Pro157Leu)
NM_000101.4(CYBA):c.475C>T (p.Pro159Ser) rs558222148
NM_000101.4(CYBA):c.476C>T (p.Pro159Leu) rs1907157836
NM_000101.4(CYBA):c.478_490del (p.Pro160fs) rs2142869698
NM_000101.4(CYBA):c.479C>G (p.Pro160Arg) rs1247886457
NM_000101.4(CYBA):c.482_483insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu162fs) rs2507521232
NM_000101.4(CYBA):c.486G>C (p.Glu162Asp) rs1907156886
NM_000101.4(CYBA):c.4_24del (p.Gly2_Met8del)
NM_000101.4(CYBA):c.511G>T (p.Glu171Ter) rs777768173
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.539C>G (p.Pro180Arg) rs1207976536
NM_000101.4(CYBA):c.539dup (p.Gly182fs) rs2507520946
NM_000101.4(CYBA):c.541G>C (p.Gly181Arg) rs1413781990
NM_000101.4(CYBA):c.553G>A (p.Val185Ile) rs1158937022
NM_000101.4(CYBA):c.566C>T (p.Pro189Leu) rs746724477
NM_000101.4(CYBA):c.574G>A (p.Asp192Asn) rs777676283
NM_000101.4(CYBA):c.574G>C (p.Asp192His) rs777676283
NM_000101.4(CYBA):c.574G>T (p.Asp192Tyr) rs777676283
NM_000101.4(CYBA):c.578_*3del (p.Glu193fs)
NM_000101.4(CYBA):c.58+5G>C rs1178334922
NM_000101.4(CYBA):c.583G>C (p.Val195Leu)
NM_000101.4(CYBA):c.59-3C>T
NM_000101.4(CYBA):c.60C>G (p.Ile20Met) rs781702057
NM_000101.4(CYBA):c.73G>C (p.Gly25Arg) rs1191795377
NM_000101.4(CYBA):c.74G>A (p.Gly25Asp) rs179363891
NM_000101.4(CYBA):c.8A>C (p.Gln3Pro)
NM_000101.4(CYBA):c.95G>T (p.Arg32Leu) rs368862873

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