ClinVar Miner

List of variants reported as likely pathogenic for Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

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Total variants: 3
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HGVS dbSNP
NM_000433.3(NCF2):c.1026+1G>C rs1558092897
NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) rs796065033
NM_000433.3(NCF2):c.605C>T (p.Ala202Val) rs137854508

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