ClinVar Miner

List of variants in gene IFNGR2 reported as pathogenic for Immunodeficiency 28

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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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