List of variants in gene NCF2 studied for Chronic granulomatous disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000433.4(NCF2):c.*517dup	rs573207861	0.00065
NM_000433.4(NCF2):c.*445A>C	rs886045647	0.00001
NM_000433.4(NCF2):c.1026G>A (p.Lys342=)	rs1459123494	0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val)	rs137854508	0.00001
NM_000433.4(NCF2):c.*264AG[2]	rs886045650
NM_000433.4(NCF2):c.*393del	rs771465757
NM_000433.4(NCF2):c.*393dup	rs771465757
NM_000433.4(NCF2):c.397_398insTCA	rs886045648
NM_000433.4(NCF2):c.508_512dup	rs555649211
NM_000433.4(NCF2):c.*510T>A	rs886045646
NM_000433.4(NCF2):c.*539GTTT[1]	rs376681445
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.1438del (p.Glu480fs)	rs2102875639
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
NM_000433.4(NCF2):c.623_624del (p.Val208fs)

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