ClinVar Miner

List of variants reported as benign for Chronic granulomatous disease

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Total variants: 11
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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.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+8T>C rs4782393 0.44118
NM_000397.4(CYBB):c.1002G>A (p.Lys334=) rs2228117 0.05579
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_000397.4(CYBB):c.1689C>T (p.Phe563=) rs567830215 0.00023
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018

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