ClinVar Miner

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

Included ClinVar conditions (908):
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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.36A>G (p.Glu12=) rs8053867 0.99925
NM_000101.4(CYBA):c.*49T>C rs7195830 0.68978
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) rs1049254 0.68722
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_000101.4(CYBA):c.203+36C>T rs4782308 0.63977
NM_000101.4(CYBA):c.59-37G>A rs2306422 0.50259
NM_000101.4(CYBA):c.*24G>A rs1049255 0.47867
NM_000101.4(CYBA):c.203+8T>C rs4782393 0.44118
NC_000016.10:g.88651688A>T rs72811418 0.10101
NM_000101.4(CYBA):c.237G>C (p.Leu79=) rs2228472 0.03976
NM_000101.4(CYBA):c.381T>C (p.Arg127=) rs12123 0.02582
NM_000101.4(CYBA):c.480G>A (p.Pro160=) rs72547284 0.02182
NM_000101.4(CYBA):c.59-4G>A rs199989792 0.00418
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387 0.00354
NM_000101.4(CYBA):c.36= (p.Glu12=) rs8053867 0.00335
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) rs114610092 0.00300

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