List of variants in gene combination IFNGR2, LOC119266102 reported as uncertain significance for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 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: 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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