List of variants in gene combination IFNGR2, TMEM50B reported as uncertain significance 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: 27

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HGVS	dbSNP	gnomAD frequency
NM_005534.4(IFNGR2):c.940G>A (p.Asp314Asn)	rs369529404	0.00012
NM_005534.4(IFNGR2):c.889G>A (p.Asp297Asn)	rs121913219	0.00007
NM_005534.4(IFNGR2):c.879+5G>A	rs375538161	0.00006
NM_005534.4(IFNGR2):c.724T>A (p.Ser242Thr)	rs145216430	0.00004
NM_005534.4(IFNGR2):c.764C>T (p.Thr255Ile)	rs373582182	0.00004
NM_005534.4(IFNGR2):c.977C>T (p.Pro326Leu)	rs202237583	0.00003
NM_005534.4(IFNGR2):c.757G>A (p.Val253Met)	rs191792822	0.00002
NM_005534.4(IFNGR2):c.869A>C (p.Gln290Pro)	rs143025663	0.00002
NM_005534.4(IFNGR2):c.879+4C>T	rs770663375	0.00002
NM_005534.4(IFNGR2):c.946G>A (p.Val316Ile)	rs766433285	0.00001
NM_005534.4(IFNGR2):c.949T>C (p.Trp317Arg)	rs755201347	0.00001
NM_005534.4(IFNGR2):c.971C>T (p.Ser324Leu)	rs749163514	0.00001
NC_000021.8:g.(?_34799171)_(34809289_?)dup
NM_005534.4(IFNGR2):c.1006A>G (p.Thr336Ala)	rs202122427
NM_005534.4(IFNGR2):c.1007C>G (p.Thr336Arg)	rs763384272
NM_005534.4(IFNGR2):c.1007C>T (p.Thr336Met)	rs763384272
NM_005534.4(IFNGR2):c.1013G>C (p.Ter338Ser)
NM_005534.4(IFNGR2):c.761G>A (p.Gly254Glu)
NM_005534.4(IFNGR2):c.761G>T (p.Gly254Val)
NM_005534.4(IFNGR2):c.788C>T (p.Ala263Val)	rs2083902202
NM_005534.4(IFNGR2):c.791G>A (p.Gly264Glu)	rs2083902242
NM_005534.4(IFNGR2):c.802T>C (p.Phe268Leu)	rs2123370275
NM_005534.4(IFNGR2):c.824G>T (p.Gly275Val)
NM_005534.4(IFNGR2):c.914C>T (p.Ala305Val)	rs893539360
NM_005534.4(IFNGR2):c.934C>T (p.Pro312Ser)	rs2123384586
NM_005534.4(IFNGR2):c.958G>C (p.Val320Leu)
NM_005534.4(IFNGR2):c.990AGA[1] (p.Glu331del)	rs760530034

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