ClinVar Miner

List of variants studied for Immunodeficiency 28 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.1A>G (p.Met1Val) rs1316638883 0.00001
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.4del (p.Arg2fs) rs2083655919
NM_005534.4(IFNGR2):c.503C>A (p.Thr168Asn) rs74315444
NM_005534.4(IFNGR2):c.663_689del (p.Phe224_Ile232del) rs587776823
NM_005534.4(IFNGR2):c.800del (p.Phe267fs) rs2123370265

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