ClinVar Miner

List of variants in gene CYBA reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NC_000016.10:g.(?_88638115)(88648115_88650955)del
NC_000016.10:g.(?_88643329)_(88643581_?)del
NC_000016.10:g.(?_88643329)_(88648134_?)del
NC_000016.10:g.(?_88646106)_(88647185_?)del
NC_000016.9:g.(?_88709761)_(88717421_?)del
NC_000016.9:g.(?_88712514)_(88718096_?)del
NC_000016.9:g.(?_88713143)_(88717421_?)del
NC_000016.9:g.(?_88713499)_(88714532_?)del
NM_000101.4(CYBA):c.103C>T (p.Gln35Ter)
NM_000101.4(CYBA):c.107G>A (p.Trp36Ter)
NM_000101.4(CYBA):c.108G>A (p.Trp36Ter)
NM_000101.4(CYBA):c.109dup (p.Tyr37fs)
NM_000101.4(CYBA):c.111C>G (p.Tyr37Ter) rs2142877263
NM_000101.4(CYBA):c.166del (p.Arg56fs) rs1352931329
NM_000101.4(CYBA):c.166dup (p.Arg56fs) rs1352931329
NM_000101.4(CYBA):c.171del (p.Lys58fs) rs763678131
NM_000101.4(CYBA):c.17G>A (p.Trp6Ter) rs2142883490
NM_000101.4(CYBA):c.18G>A (p.Trp6Ter)
NM_000101.4(CYBA):c.196G>T (p.Glu66Ter)
NM_000101.4(CYBA):c.204-2A>G rs113932941
NM_000101.4(CYBA):c.21del (p.Met8fs) rs1597374562
NM_000101.4(CYBA):c.246_273del (p.Phe83fs)
NM_000101.4(CYBA):c.246del (p.Phe83fs) rs1439134665
NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter) rs779809359
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter) rs779809359
NM_000101.4(CYBA):c.267del (p.Arg90fs)
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln) rs104894513
NM_000101.4(CYBA):c.26G>A (p.Trp9Ter) rs535897564
NM_000101.4(CYBA):c.281A>G (p.His94Arg) rs104894510
NM_000101.4(CYBA):c.287+1G>A rs1567609091
NM_000101.4(CYBA):c.287+1G>T
NM_000101.4(CYBA):c.288-13_310del rs1907271302
NM_000101.4(CYBA):c.288-15C>G rs1567608853
NM_000101.4(CYBA):c.295_301del (p.Val99fs)
NM_000101.4(CYBA):c.295del (p.Val99fs) rs1907272370
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.369+1G>T
NM_000101.4(CYBA):c.373G>A (p.Ala125Thr) rs119103269
NM_000101.4(CYBA):c.393G>A (p.Trp131Ter) rs1284271131
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) rs104894515
NM_000101.4(CYBA):c.467del (p.Pro156fs)
NM_000101.4(CYBA):c.472_484del (p.Pro160fs) rs1272232395
NM_000101.4(CYBA):c.58+4_58+7del rs771926427
NM_000101.4(CYBA):c.59-2A>T rs1907355667
NM_000101.4(CYBA):c.68_76del (p.Thr23_Gly25del)
NM_000101.4(CYBA):c.77del (p.Ile26fs) rs1326361967
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511

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