List of variants studied for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
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
NM_000433.3(NCF2):c.[479A>T;481A>G]
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.298C>T (p.Gln100Ter)	rs119103276
NM_000433.4(NCF2):c.399_400dup (p.Lys134fs)	rs796065030
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)	rs796065033

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