ClinVar Miner

List of variants reported as likely benign for Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

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ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_000101.3(CYBA):c.-70G>A rs72550704 0.00941
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00250
NM_000101.4(CYBA):c.225C>T (p.Ala75=) rs144697580 0.00020
NM_000101.4(CYBA):c.204-20C>T rs374947604 0.00011
NM_000101.4(CYBA):c.240C>T (p.Phe80=) rs373948664 0.00009
NM_000101.4(CYBA):c.564C>T (p.Ile188=) rs776216387 0.00007
NM_000101.4(CYBA):c.432C>T (p.Ile144=) rs760991073 0.00006
NM_000101.4(CYBA):c.567G>A (p.Pro189=) rs1407529453 0.00006
NM_000101.4(CYBA):c.468G>A (p.Pro156=) rs964575579 0.00005
NM_000101.4(CYBA):c.471G>A (p.Pro157=) rs992691010 0.00005
NM_000101.4(CYBA):c.576C>T (p.Asp192=) rs758314115 0.00005
NM_000101.4(CYBA):c.78C>T (p.Ile26=) rs759139349 0.00005
NM_000101.4(CYBA):c.287+15C>T rs530322915 0.00004
NM_000101.4(CYBA):c.288-13C>T rs13306295 0.00004
NM_000101.4(CYBA):c.288-9G>C rs752178670 0.00004
NM_000101.4(CYBA):c.303C>T (p.Ala101=) rs768942360 0.00004
NM_000101.4(CYBA):c.369+10G>A rs1045781041 0.00004
NM_000101.4(CYBA):c.372G>A (p.Ala124=) rs779447060 0.00004
NM_000101.4(CYBA):c.402C>T (p.Ile134=) rs762995249 0.00003
NM_000101.4(CYBA):c.483C>T (p.Ala161=) rs376631447 0.00003
NM_000101.4(CYBA):c.540G>A (p.Pro180=) rs1313834143 0.00003
NM_000101.4(CYBA):c.69C>T (p.Thr23=) rs529905180 0.00003
NM_000101.4(CYBA):c.243G>A (p.Gly81=) rs11547386 0.00002
NM_000101.4(CYBA):c.294G>A (p.Ser98=) rs146079546 0.00002
NM_000101.4(CYBA):c.300C>T (p.Pro100=) rs748221106 0.00002
NM_000101.4(CYBA):c.306C>T (p.Gly102=) rs867515217 0.00002
NM_000101.4(CYBA):c.333C>T (p.Thr111=) rs978238415 0.00002
NM_000101.4(CYBA):c.370-4G>A rs560810774 0.00002
NM_000101.4(CYBA):c.370-5C>T rs778207143 0.00002
NM_000101.4(CYBA):c.426G>A (p.Pro142=) rs771202971 0.00002
NM_000101.4(CYBA):c.453G>A (p.Pro151=) rs113033082 0.00002
NM_000101.4(CYBA):c.495G>A (p.Lys165=) rs1021677280 0.00002
NM_000101.4(CYBA):c.528G>A (p.Ala176=) rs762277251 0.00002
NM_000101.4(CYBA):c.573C>T (p.Thr191=) rs1159034472 0.00002
NM_000101.4(CYBA):c.114T>C (p.Phe38=) rs771957240 0.00001
NM_000101.4(CYBA):c.141G>C (p.Val47=) rs1473527044 0.00001
NM_000101.4(CYBA):c.150C>T (p.Cys50=) rs758840868 0.00001
NM_000101.4(CYBA):c.156G>C (p.Leu52=) rs1181233294 0.00001
NM_000101.4(CYBA):c.162C>T (p.Tyr54=) rs779533388 0.00001
NM_000101.4(CYBA):c.183G>A (p.Lys61=) rs775610308 0.00001
NM_000101.4(CYBA):c.189C>T (p.Ser63=) rs1353086993 0.00001
NM_000101.4(CYBA):c.204-11C>G rs767688472 0.00001
NM_000101.4(CYBA):c.222C>T (p.Thr74=) rs775908190 0.00001
NM_000101.4(CYBA):c.249T>C (p.Phe83=) rs953416471 0.00001
NM_000101.4(CYBA):c.264T>C (p.Tyr88=) rs767598507 0.00001
NM_000101.4(CYBA):c.273C>T (p.Ala91=) rs765593188 0.00001
NM_000101.4(CYBA):c.287+10C>T rs755948366 0.00001
NM_000101.4(CYBA):c.287+9C>A rs748998742 0.00001
NM_000101.4(CYBA):c.345C>T (p.Ala115=) rs1022986934 0.00001
NM_000101.4(CYBA):c.348T>C (p.Ile116=) rs1252969420 0.00001
NM_000101.4(CYBA):c.351G>A (p.Ala117=) rs746239603 0.00001
NM_000101.4(CYBA):c.351G>T (p.Ala117=) rs746239603 0.00001
NM_000101.4(CYBA):c.369+9C>T rs1028639370 0.00001
NM_000101.4(CYBA):c.370-7C>T rs747488013 0.00001
NM_000101.4(CYBA):c.375T>C (p.Ala125=) rs1412775898 0.00001
NM_000101.4(CYBA):c.396G>A (p.Thr132=) rs933701832 0.00001
NM_000101.4(CYBA):c.396G>T (p.Thr132=) rs933701832 0.00001
NM_000101.4(CYBA):c.399C>T (p.Pro133=) rs1364191254 0.00001
NM_000101.4(CYBA):c.408C>G (p.Pro136=) rs982199940 0.00001
NM_000101.4(CYBA):c.519G>A (p.Ala173=) rs752613883 0.00001
NM_000101.4(CYBA):c.51C>T (p.Ser17=) rs1333090671 0.00001
NM_000101.4(CYBA):c.522G>A (p.Val174=) rs1199442120 0.00001
NM_000101.4(CYBA):c.537C>T (p.Pro179=) rs1206595297 0.00001
NM_000101.4(CYBA):c.549C>G (p.Pro183=) rs1327160850 0.00001
NM_000101.4(CYBA):c.58+13C>A rs1364625103 0.00001
NM_000101.4(CYBA):c.59-20dup rs1247289423 0.00001
NM_000101.4(CYBA):c.59-5C>T rs185846992 0.00001
NM_000101.4(CYBA):c.63C>T (p.Leu21=) rs375141871 0.00001
NM_000101.4(CYBA):c.102C>G (p.Thr34=) rs1277646913
NM_000101.4(CYBA):c.120C>T (p.Ala40=)
NM_000101.4(CYBA):c.123C>T (p.Tyr41=) rs1392801745
NM_000101.4(CYBA):c.128+10del rs755407489
NM_000101.4(CYBA):c.128+12C>T
NM_000101.4(CYBA):c.128+17G>A
NM_000101.4(CYBA):c.128+17G>T
NM_000101.4(CYBA):c.129-10A>G rs770067081
NM_000101.4(CYBA):c.129-11C>A rs2142876252
NM_000101.4(CYBA):c.129-18T>C
NM_000101.4(CYBA):c.129-20C>T
NM_000101.4(CYBA):c.135G>A (p.Ala45=) rs372187837
NM_000101.4(CYBA):c.135G>C (p.Ala45=) rs372187837
NM_000101.4(CYBA):c.138C>A (p.Gly46=)
NM_000101.4(CYBA):c.141G>A (p.Val47=) rs1473527044
NM_000101.4(CYBA):c.147G>A (p.Val49=)
NM_000101.4(CYBA):c.151C>T (p.Leu51=) rs2142876174
NM_000101.4(CYBA):c.153G>A (p.Leu51=) rs748709840
NM_000101.4(CYBA):c.153G>C (p.Leu51=) rs748709840
NM_000101.4(CYBA):c.154C>T (p.Leu52=) rs2142876166
NM_000101.4(CYBA):c.159G>A (p.Glu53=)
NM_000101.4(CYBA):c.15G>A (p.Glu5=) rs1907508822
NM_000101.4(CYBA):c.166C>A (p.Arg56=) rs767148046
NM_000101.4(CYBA):c.168G>A (p.Arg56=) rs2142876097
NM_000101.4(CYBA):c.171G>A (p.Gly57=)
NM_000101.4(CYBA):c.171G>C (p.Gly57=)
NM_000101.4(CYBA):c.174G>A (p.Lys58=)
NM_000101.4(CYBA):c.180G>A (p.Lys60=)
NM_000101.4(CYBA):c.186C>T (p.Gly62=) rs1031460674
NM_000101.4(CYBA):c.192C>T (p.Thr64=)
NM_000101.4(CYBA):c.198G>A (p.Glu66=) rs2142876015
NM_000101.4(CYBA):c.203+12_203+14del rs773727027
NM_000101.4(CYBA):c.203+14T>C
NM_000101.4(CYBA):c.203+16C>A
NM_000101.4(CYBA):c.203+17T>G
NM_000101.4(CYBA):c.203+18C>G
NM_000101.4(CYBA):c.203+7C>T
NM_000101.4(CYBA):c.203+9C>T rs1597372442
NM_000101.4(CYBA):c.204-10C>G rs2142875593
NM_000101.4(CYBA):c.204-10C>T
NM_000101.4(CYBA):c.204-17C>A
NM_000101.4(CYBA):c.204-17C>T
NM_000101.4(CYBA):c.204-18C>A
NM_000101.4(CYBA):c.204-19G>A
NM_000101.4(CYBA):c.204-20C>G
NM_000101.4(CYBA):c.204-4C>A rs377055239
NM_000101.4(CYBA):c.204-4C>G rs377055239
NM_000101.4(CYBA):c.204-4C>T rs377055239
NM_000101.4(CYBA):c.204-7C>T
NM_000101.4(CYBA):c.204-8_204-5del rs745707659
NM_000101.4(CYBA):c.204-9_204-3dup rs2142875565
NM_000101.4(CYBA):c.210G>A (p.Gln70=) rs1907304194
NM_000101.4(CYBA):c.213G>A (p.Lys71=)
NM_000101.4(CYBA):c.21C>T (p.Ala7=) rs1907508331
NM_000101.4(CYBA):c.222C>A (p.Thr74=)
NM_000101.4(CYBA):c.225C>A (p.Ala75=)
NM_000101.4(CYBA):c.231G>A (p.Val77=) rs2142875430
NM_000101.4(CYBA):c.235C>T (p.Leu79=)
NM_000101.4(CYBA):c.237G>A (p.Leu79=) rs2228472
NM_000101.4(CYBA):c.237G>T (p.Leu79=) rs2228472
NM_000101.4(CYBA):c.252C>T (p.Thr84=)
NM_000101.4(CYBA):c.258T>C (p.Asn86=)
NM_000101.4(CYBA):c.261C>T (p.Tyr87=)
NM_000101.4(CYBA):c.279G>T (p.Leu93=)
NM_000101.4(CYBA):c.287+10C>G rs755948366
NM_000101.4(CYBA):c.287+11G>A
NM_000101.4(CYBA):c.287+13C>T
NM_000101.4(CYBA):c.287+14C>A
NM_000101.4(CYBA):c.287+14C>T
NM_000101.4(CYBA):c.287+16G>A
NM_000101.4(CYBA):c.287+18A>C
NM_000101.4(CYBA):c.287+19C>T
NM_000101.4(CYBA):c.287+20C>A
NM_000101.4(CYBA):c.287+20C>T
NM_000101.4(CYBA):c.287+7C>T
NM_000101.4(CYBA):c.287+9C>T rs748998742
NM_000101.4(CYBA):c.288-11C>G
NM_000101.4(CYBA):c.288-12G>A
NM_000101.4(CYBA):c.288-12G>T
NM_000101.4(CYBA):c.288-15C>T
NM_000101.4(CYBA):c.288-17C>T
NM_000101.4(CYBA):c.288-9G>A rs752178670
NM_000101.4(CYBA):c.291C>G (p.Leu97=) rs575218068
NM_000101.4(CYBA):c.291C>T (p.Leu97=) rs575218068
NM_000101.4(CYBA):c.294G>C (p.Ser98=) rs146079546
NM_000101.4(CYBA):c.303C>G (p.Ala101=)
NM_000101.4(CYBA):c.313C>T (p.Leu105=) rs866245783
NM_000101.4(CYBA):c.324C>T (p.Ile108=)
NM_000101.4(CYBA):c.33C>T (p.Asn11=) rs568720786
NM_000101.4(CYBA):c.354C>T (p.Ser118=) rs104894514
NM_000101.4(CYBA):c.360C>T (p.Ile120=) rs2142873765
NM_000101.4(CYBA):c.363C>T (p.Tyr121=)
NM_000101.4(CYBA):c.369+11C>T rs553349185
NM_000101.4(CYBA):c.369+12C>T
NM_000101.4(CYBA):c.369+15C>G
NM_000101.4(CYBA):c.369+18A>C
NM_000101.4(CYBA):c.369+18A>G rs1417703902
NM_000101.4(CYBA):c.369+19G>A
NM_000101.4(CYBA):c.369+7G>A
NM_000101.4(CYBA):c.370-13C>T
NM_000101.4(CYBA):c.370-16del
NM_000101.4(CYBA):c.370-17C>A
NM_000101.4(CYBA):c.370-18C>T
NM_000101.4(CYBA):c.370-19A>C
NM_000101.4(CYBA):c.370-20A>C rs1907167355
NM_000101.4(CYBA):c.370-8C>T
NM_000101.4(CYBA):c.381T>G (p.Arg127=) rs12123
NM_000101.4(CYBA):c.384C>A (p.Gly128=) rs72547285
NM_000101.4(CYBA):c.384C>G (p.Gly128=) rs72547285
NM_000101.4(CYBA):c.384C>T (p.Gly128=) rs72547285
NM_000101.4(CYBA):c.387G>A (p.Glu129=) rs2142870052
NM_000101.4(CYBA):c.399C>G (p.Pro133=) rs1364191254
NM_000101.4(CYBA):c.402C>A (p.Ile134=)
NM_000101.4(CYBA):c.405G>A (p.Glu135=) rs1389470918
NM_000101.4(CYBA):c.411G>A (p.Lys137=)
NM_000101.4(CYBA):c.426G>C (p.Pro142=) rs771202971
NM_000101.4(CYBA):c.42G>A (p.Ala14=)
NM_000101.4(CYBA):c.42G>C (p.Ala14=) rs1012375962
NM_000101.4(CYBA):c.444C>T (p.Ile148=) rs2142869830
NM_000101.4(CYBA):c.450G>A (p.Gln150=) rs983923488
NM_000101.4(CYBA):c.45G>A (p.Leu15=)
NM_000101.4(CYBA):c.468G>C (p.Pro156=) rs964575579
NM_000101.4(CYBA):c.492C>T (p.Arg164=)
NM_000101.4(CYBA):c.498G>A (p.Lys166=) rs898809017
NM_000101.4(CYBA):c.504C>T (p.Ser168=)
NM_000101.4(CYBA):c.51C>G (p.Ser17=) rs1333090671
NM_000101.4(CYBA):c.521_522inv (p.Val174Ala)
NM_000101.4(CYBA):c.525G>A (p.Ala175=) rs766523764
NM_000101.4(CYBA):c.528G>C (p.Ala176=) rs762277251
NM_000101.4(CYBA):c.531G>A (p.Gly177=) rs769229409
NM_000101.4(CYBA):c.543A>C (p.Gly181=)
NM_000101.4(CYBA):c.552G>A (p.Gln184=)
NM_000101.4(CYBA):c.555C>A (p.Val185=) rs2142869404
NM_000101.4(CYBA):c.558C>T (p.Asn186=)
NM_000101.4(CYBA):c.561C>T (p.Pro187=) rs1907150457
NM_000101.4(CYBA):c.564C>A (p.Ile188=) rs776216387
NM_000101.4(CYBA):c.566C>G (p.Pro189Arg) rs746724477
NM_000101.4(CYBA):c.570G>T (p.Val190=)
NM_000101.4(CYBA):c.58+10C>T rs764175904
NM_000101.4(CYBA):c.58+10dup
NM_000101.4(CYBA):c.58+11G>A
NM_000101.4(CYBA):c.58+15G>A
NM_000101.4(CYBA):c.58+19C>T
NM_000101.4(CYBA):c.58+20G>A
NM_000101.4(CYBA):c.58+20G>C
NM_000101.4(CYBA):c.58+7G>A rs112465635
NM_000101.4(CYBA):c.582C>T (p.Val194=)
NM_000101.4(CYBA):c.59-13C>A rs1356226217
NM_000101.4(CYBA):c.59-13C>G
NM_000101.4(CYBA):c.59-13C>T
NM_000101.4(CYBA):c.59-14A>C
NM_000101.4(CYBA):c.59-17C>T
NM_000101.4(CYBA):c.59-19G>A
NM_000101.4(CYBA):c.59-7C>T rs2142877445
NM_000101.4(CYBA):c.6G>A (p.Gly2=) rs777048163
NM_000101.4(CYBA):c.84C>G (p.Ala28=)
NM_000101.4(CYBA):c.96C>G (p.Arg32=) rs2142877301
NM_000101.4(CYBA):c.99C>T (p.Phe33=) rs2142877295

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