List of variants in gene IFNGR1 reported as pathogenic for Disseminated atypical mycobacterial infection

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000416.3(IFNGR1):c.373+1G>T	rs532749039	0.00001
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)	rs749956849	0.00001
NM_000416.3(IFNGR1):c.672G>A (p.Trp224Ter)	rs1160070099	0.00001
NM_000416.3(IFNGR1):c.373+2T>C	rs1554227230
NM_000416.3(IFNGR1):c.641_644delinsCC (p.Cys214fs)	rs1582634237
NM_000416.3(IFNGR1):c.643_644del (p.Val215fs)	rs2548232789
NM_000416.3(IFNGR1):c.781del (p.Ser262fs)	rs2114462360
NM_000416.3(IFNGR1):c.805del (p.Tyr269fs)	rs2114462231
NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)	rs587776856

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