ClinVar Miner

List of variants in gene CYBA reported by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NC_000016.10:g.(?_88638115)(88648115_88650955)del
NM_000101.4(CYBA):c.246del (p.Phe83fs) rs1439134665
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln) rs104894513
NM_000101.4(CYBA):c.281A>G (p.His94Arg) rs104894510
NM_000101.4(CYBA):c.287+1G>A rs1567609091
NM_000101.4(CYBA):c.288-13_310del rs1907271302
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.373G>A (p.Ala125Thr) rs119103269
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) rs104894515
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511

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