ClinVar Miner

List of variants in gene combination IFNGR2, LOC119266102 reported as uncertain significance for Immunodeficiency 28

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe) rs1012938610 0.00124
NM_005534.4(IFNGR2):c.53C>T (p.Ala18Val) rs773932279 0.00013
NM_005534.4(IFNGR2):c.8C>G (p.Pro3Arg) rs773084508 0.00007
NM_005534.4(IFNGR2):c.20_31dup (p.Leu10_Leu11insArgSerLeuLeu) rs1466765626 0.00004
NM_005534.4(IFNGR2):c.56C>T (p.Ala19Val) rs956427420 0.00001
NM_005534.4(IFNGR2):c.58G>A (p.Ala20Thr) rs1176465152 0.00001
NM_005534.4(IFNGR2):c.19T>C (p.Trp7Arg)
NM_005534.4(IFNGR2):c.19_36dup (p.Leu12_Leu13insTrpSerLeuLeuLeuLeu)
NM_005534.4(IFNGR2):c.24GCT[6] (p.Leu13dup) rs753866192
NM_005534.4(IFNGR2):c.48CGC[1] (p.Ala19_Ala22del) rs765468464
NM_005534.4(IFNGR2):c.48CGC[2] (p.Ala20_Ala22del) rs765468464
NM_005534.4(IFNGR2):c.48CGC[3] (p.Ala21_Ala22del) rs765468464
NM_005534.4(IFNGR2):c.48CGC[6] (p.Ala22dup) rs765468464
NM_005534.4(IFNGR2):c.48CGC[7] (p.Ala22_Pro23insAlaAla)
NM_005534.4(IFNGR2):c.65C>T (p.Ala22Val) rs1555878402

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