List of variants in gene IRF8, LOC130059663 studied for Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_002163.4(IRF8):c.300A>G (p.Gln100=)	rs11545564	0.01115
NM_002163.4(IRF8):c.312C>T (p.Ser104=)	rs541779534	0.00012
NM_002163.4(IRF8):c.358+18G>A	rs200617822	0.00005
NM_002163.4(IRF8):c.315G>A (p.Glu105=)
NM_002163.4(IRF8):c.332G>A (p.Arg111Gln)	rs371942842
NM_002163.4(IRF8):c.343G>C (p.Glu115Gln)
NM_002163.4(IRF8):c.358+16G>C
NM_002163.4(IRF8):c.358+4A>C
NM_002163.4(IRF8):c.358+4A>T
NM_002163.4(IRF8):c.358+7A>T
NM_002163.4(IRF8):c.358+9C>T

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