ClinVar Miner

List of variants reported as pathogenic for Chronic granulomatous disease by Natera, Inc.

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Total variants: 8
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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.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) rs137854592 0.00001
NM_000101.4(CYBA):c.166dup (p.Arg56fs) rs1352931329
NM_000101.4(CYBA):c.204-2A>G rs113932941
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter) rs779809359
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511
NM_000397.4(CYBB):c.483+1G>T rs1131691828

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