List of variants in gene IFNGR2 reported as pathogenic for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005534.4(IFNGR2):c.278_279del (p.Glu93fs)	rs587776822
NM_005534.4(IFNGR2):c.382_387dup (p.Thr128_Met129dup)	rs398122890
NM_005534.4(IFNGR2):c.503C>A (p.Thr168Asn)	rs74315444
NM_005534.4(IFNGR2):c.503_504del (p.Thr168fs)	rs1319389333
NM_005534.4(IFNGR2):c.663_689del (p.Phe224_Ile232del)	rs587776823
NM_005534.4(IFNGR2):c.709dup (p.Thr237fs)	rs2123368937

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