List of variants in gene combination IFNGR2, TMEM50B reported as likely benign for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_005534.4(IFNGR2):c.879+15A>G	rs372109363	0.00073
NM_005534.4(IFNGR2):c.939G>A (p.Lys313=)	rs138655852	0.00031
NM_005534.4(IFNGR2):c.756C>T (p.Ser252=)	rs186369364	0.00021
NM_005534.4(IFNGR2):c.771G>A (p.Ser257=)	rs115458101	0.00005
NM_005534.4(IFNGR2):c.779C>T (p.Ser260Leu)	rs116536727	0.00004
NM_005534.4(IFNGR2):c.780G>A (p.Ser260=)	rs121913217	0.00004
NM_005534.4(IFNGR2):c.1008G>A (p.Thr336=)	rs121913221	0.00003
NM_005534.4(IFNGR2):c.722-8C>G	rs376105280	0.00002
NM_005534.4(IFNGR2):c.795C>T (p.Ala265=)	rs566154275	0.00002
NM_005534.4(IFNGR2):c.879+17C>A	rs1386597042	0.00002
NM_005534.4(IFNGR2):c.945C>T (p.Asp315=)	rs1802585	0.00002
NM_005534.4(IFNGR2):c.957T>C (p.Ser319=)	rs141705742	0.00002
NM_005534.4(IFNGR2):c.774G>A (p.Leu258=)	rs1280277219	0.00001
NM_005534.4(IFNGR2):c.722-10C>T
NM_005534.4(IFNGR2):c.768T>C (p.Phe256=)
NM_005534.4(IFNGR2):c.780G>C (p.Ser260=)	rs121913217
NM_005534.4(IFNGR2):c.786G>A (p.Leu262=)
NM_005534.4(IFNGR2):c.805C>T (p.Leu269=)
NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)
NM_005534.4(IFNGR2):c.828G>A (p.Leu276=)
NM_005534.4(IFNGR2):c.849T>C (p.Thr283=)
NM_005534.4(IFNGR2):c.879+17C>G	rs1386597042
NM_005534.4(IFNGR2):c.879+18_879+19insTT	rs201322939
NM_005534.4(IFNGR2):c.879+19_879+21del	rs753453319
NM_005534.4(IFNGR2):c.918G>A (p.Leu306=)
NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)

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