List of variants in gene IFNGR1 reported as pathogenic for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys)	rs387906593	0.00002
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)	rs104893973	0.00001
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)	rs749956849	0.00001
NM_000416.3(IFNGR1):c.104_107dup (p.Ile37fs)	rs587776854
NM_000416.3(IFNGR1):c.131del (p.Pro44fs)	rs587776853
NM_000416.3(IFNGR1):c.182T>A (p.Val61Glu)	rs121912715
NM_000416.3(IFNGR1):c.200+1G>A	rs587776855
NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr)	rs104893974
NM_000416.3(IFNGR1):c.295_306del (p.Trp99_Val102del)	rs587776857
NM_000416.3(IFNGR1):c.446C>A (p.Ser149Ter)	rs387906572
NM_000416.3(IFNGR1):c.476del (p.Val159fs)	rs1582635229
NM_000416.3(IFNGR1):c.653_655del (p.Glu218del)	rs587776858
NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)	rs587776856
NM_000416.3(IFNGR1):c.86-1_93del	rs753213766

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