ClinVar Miner

List of variants reported as not provided for Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

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Total variants: 14
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HGVS dbSNP
NM_000433.3(NCF2):c.125A>G (p.Asn42Ser) rs137854514
NM_000433.3(NCF2):c.130G>C (p.Gly44Arg) rs137854510
NM_000433.3(NCF2):c.130G>T (p.Gly44Cys) rs137854510
NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) rs119103275
NM_000433.3(NCF2):c.233G>A (p.Gly78Glu) rs137854519
NM_000433.3(NCF2):c.279C>G (p.Asp93Glu) rs137854507
NM_000433.3(NCF2):c.305G>C (p.Arg102Pro) rs137854515
NM_000433.3(NCF2):c.323A>T (p.Asp108Val) rs137854509
NM_000433.3(NCF2):c.383C>T (p.Ala128Val) rs119103274
NM_000433.3(NCF2):c.409T>A (p.Trp137Arg) rs137854516
NM_000433.3(NCF2):c.419C>A (p.Ala140Asp) rs137854520
NM_000433.3(NCF2):c.505C>G (p.Gln169Glu) rs137854517
NM_000433.3(NCF2):c.551G>C (p.Arg184Pro) rs137854518
NM_000433.3(NCF2):c.605C>T (p.Ala202Val) rs137854508

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