ClinVar Miner

List of variants reported as pathogenic for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter) rs766745748 0.00003
NM_000433.4(NCF2):c.304C>T (p.Arg102Ter) rs374402066 0.00002
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) rs119103275 0.00001
NM_000433.4(NCF2):c.366+1G>A rs796065032 0.00001
NM_000433.4(NCF2):c.383C>T (p.Ala128Val) rs119103274 0.00001
NC_000001.10:g.(?_183529360)_(183586672_?)del
NC_000001.10:g.(?_183536035)_(183536500_?)dup
NC_000001.10:g.(?_183538257)_(183543776_?)del
NC_000001.10:g.(?_183542300)_(183542447_?)del
NC_000001.10:g.(?_183543602)_(183543776_?)del
NC_000001.10:g.(?_183546714)_(183546862_?)del
NC_000001.10:g.(?_183556010)_(183556132_?)del
NC_000001.10:g.(?_183559271)_(183559464_?)del
NC_000001.11:g.183563586del
NC_000001.11:g.183586978del rs2102934597
NM_000433.3(NCF2):c.[479A>T;481A>G]
NM_000433.4(NCF2):c.1038_1039del (p.Ser347fs)
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)
NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter) rs1572151178
NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter) rs1349405769
NM_000433.4(NCF2):c.1165_1171del (p.His389fs)
NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs) rs796065031
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer) rs1472146831
NM_000433.4(NCF2):c.172A>T (p.Lys58Ter)
NM_000433.4(NCF2):c.196C>T (p.Arg66Ter) rs750782115
NM_000433.4(NCF2):c.1A>T (p.Met1Leu) rs780810631
NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)
NM_000433.4(NCF2):c.236del (p.Met79fs)
NM_000433.4(NCF2):c.246C>A (p.Tyr82Ter)
NM_000433.4(NCF2):c.251_254del (p.Thr84fs) rs2102934288
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) rs119103276
NM_000433.4(NCF2):c.2T>C (p.Met1Thr)
NM_000433.4(NCF2):c.30G>A (p.Trp10Ter) rs2102942512
NM_000433.4(NCF2):c.343C>T (p.Gln115Ter)
NM_000433.4(NCF2):c.399_400dup (p.Lys134fs) rs796065030
NM_000433.4(NCF2):c.40del (p.Val14fs) rs1290169467
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.475del (p.Ile159fs)
NM_000433.4(NCF2):c.482del (p.Lys161fs) rs1558098982
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del) rs796065033
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)
NM_000433.4(NCF2):c.65G>A (p.Trp22Ter)
NM_000433.4(NCF2):c.713+1G>A rs763317358
NM_000433.4(NCF2):c.728del (p.Glu243fs)
NM_000433.4(NCF2):c.830G>A (p.Trp277Ter) rs2102890652
NM_000433.4(NCF2):c.835_836del (p.Thr279fs) rs1064794299
NM_000433.4(NCF2):c.873C>A (p.Cys291Ter)
NM_000433.4(NCF2):c.904del (p.His302fs) rs777621636
NM_000433.4(NCF2):c.910C>T (p.Gln304Ter) rs774932046

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