ClinVar Miner

List of variants reported as likely benign for Chronic granulomatous disease

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000433.3(NCF2):c.-249_-248insA rs35066000 0.06127
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00250
NM_000397.4(CYBB):c.686G>A (p.Arg229His) rs139670417 0.00106
NM_000397.4(CYBB):c.46-7T>C rs182039020 0.00070
NM_000397.4(CYBB):c.6G>C (p.Gly2=) rs372462475 0.00029
NM_000397.4(CYBB):c.675-4C>T rs782223666 0.00013
NM_000397.4(CYBB):c.969A>G (p.Gln323=) rs144764222 0.00012
NM_000397.4(CYBB):c.142-12C>T rs13306298 0.00009
NM_000397.4(CYBB):c.1587-6C>T rs369705608 0.00008
NM_000397.4(CYBB):c.1158G>A (p.Ala386=) rs374511592 0.00007
NM_000397.4(CYBB):c.1203T>C (p.Tyr401=) rs782312337 0.00006
NM_000397.4(CYBB):c.1701G>A (p.Lys567=) rs140774378 0.00005
NM_000397.4(CYBB):c.1413C>T (p.Ala471=) rs782094378 0.00004
NM_000397.4(CYBB):c.171A>G (p.Ala57=) rs781824754 0.00004
NM_000397.4(CYBB):c.348C>T (p.Thr116=) rs782735382 0.00004
NM_000397.4(CYBB):c.388C>A (p.Arg130=) rs180899069 0.00004
NM_000397.4(CYBB):c.1581C>T (p.His527=) rs781915934 0.00003
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_000397.4(CYBB):c.1137G>A (p.Ala379=) rs1435916818 0.00002
NM_000397.4(CYBB):c.1300C>T (p.Leu434=) rs781891223 0.00002
NM_000397.4(CYBB):c.1641T>C (p.Ser547=) rs771661205 0.00002
NM_000397.4(CYBB):c.452G>A (p.Ser151Asn) rs782500733 0.00002
NM_000397.4(CYBB):c.562T>C (p.Leu188=) rs782410841 0.00002
NM_000397.4(CYBB):c.126A>G (p.Thr42=) rs782767053 0.00001
NM_000397.4(CYBB):c.30C>T (p.Leu10=) rs781966553 0.00001
NM_000397.4(CYBB):c.43A>G (p.Ile15Val) rs781809179 0.00001
NM_000397.4(CYBB):c.549G>A (p.Thr183=) rs1556468340 0.00001
NM_000101.4(CYBA):c.468G>C (p.Pro156=) rs964575579
NM_000397.4(CYBB):c.1032C>G (p.Ser344=) rs782193225
NM_000397.4(CYBB):c.27G>T (p.Gly9=) rs979166608

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