List of variants reported as likely benign for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)	rs121913212	0.00235
NM_005534.4(IFNGR2):c.879+15A>G	rs372109363	0.00073
NM_005534.4(IFNGR2):c.595T>C (p.Leu199=)	rs149173957	0.00044
NM_005534.4(IFNGR2):c.939G>A (p.Lys313=)	rs138655852	0.00031
NM_005534.4(IFNGR2):c.312C>T (p.Gly104=)	rs142325229	0.00021
NM_005534.4(IFNGR2):c.756C>T (p.Ser252=)	rs186369364	0.00021
NM_005534.4(IFNGR2):c.90G>A (p.Leu30=)	rs546201964	0.00020
NM_005534.4(IFNGR2):c.139C>T (p.Leu47=)	rs368952126	0.00009
NM_005534.4(IFNGR2):c.417T>G (p.Thr139=)	rs747498076	0.00006
NM_005534.4(IFNGR2):c.771G>A (p.Ser257=)	rs115458101	0.00005
NM_005534.4(IFNGR2):c.126C>T (p.Asn42=)	rs376457511	0.00004
NM_005534.4(IFNGR2):c.206+8G>A	rs766931525	0.00004
NM_005534.4(IFNGR2):c.249G>A (p.Gly83=)	rs141609920	0.00004
NM_005534.4(IFNGR2):c.285C>T (p.Asp95=)	rs758417098	0.00004
NM_005534.4(IFNGR2):c.779C>T (p.Ser260Leu)	rs116536727	0.00004
NM_005534.4(IFNGR2):c.780G>A (p.Ser260=)	rs121913217	0.00004
NM_005534.4(IFNGR2):c.1008G>A (p.Thr336=)	rs121913221	0.00003
NM_005534.4(IFNGR2):c.174G>A (p.Thr58=)	rs562561420	0.00003
NM_005534.4(IFNGR2):c.510G>A (p.Thr170=)	rs121913209	0.00003
NM_005534.4(IFNGR2):c.9G>C (p.Pro3=)	rs762420616	0.00003
NM_005534.4(IFNGR2):c.51C>T (p.Ala17=)	rs1450348387	0.00002
NM_005534.4(IFNGR2):c.722-8C>G	rs376105280	0.00002
NM_005534.4(IFNGR2):c.73+10G>T	rs990250212	0.00002
NM_005534.4(IFNGR2):c.795C>T (p.Ala265=)	rs566154275	0.00002
NM_005534.4(IFNGR2):c.879+17C>A	rs1386597042	0.00002
NM_005534.4(IFNGR2):c.945C>T (p.Asp315=)	rs1802585	0.00002
NM_005534.4(IFNGR2):c.957T>C (p.Ser319=)	rs141705742	0.00002
NM_005534.4(IFNGR2):c.206+20G>A	rs1389250267	0.00001
NM_005534.4(IFNGR2):c.255T>C (p.Asn85=)	rs757139767	0.00001
NM_005534.4(IFNGR2):c.294C>T (p.Ala98=)	rs370358695	0.00001
NM_005534.4(IFNGR2):c.375C>T (p.Ala125=)	rs761956946	0.00001
NM_005534.4(IFNGR2):c.528T>C (p.Tyr176=)	rs121913210	0.00001
NM_005534.4(IFNGR2):c.721+11C>T	rs543201259	0.00001
NM_005534.4(IFNGR2):c.721+12C>T	rs891715997	0.00001
NM_005534.4(IFNGR2):c.73+8G>T	rs767210895	0.00001
NM_005534.4(IFNGR2):c.74-6C>T	rs958584242	0.00001
NM_005534.4(IFNGR2):c.774G>A (p.Leu258=)	rs1280277219	0.00001
NM_005534.4(IFNGR2):c.138C>G (p.Val46=)
NM_005534.4(IFNGR2):c.13C>T (p.Leu5=)
NM_005534.4(IFNGR2):c.153A>T (p.Pro51=)	rs745427628
NM_005534.4(IFNGR2):c.16C>T (p.Leu6=)	rs2123322462
NM_005534.4(IFNGR2):c.206+14del
NM_005534.4(IFNGR2):c.206+15_206+16del
NM_005534.4(IFNGR2):c.207-11T>C
NM_005534.4(IFNGR2):c.207-18T>C
NM_005534.4(IFNGR2):c.207-5C>G
NM_005534.4(IFNGR2):c.210C>T (p.Thr70=)
NM_005534.4(IFNGR2):c.228G>A (p.Thr76=)
NM_005534.4(IFNGR2):c.237C>T (p.Ile79=)	rs2123348868
NM_005534.4(IFNGR2):c.279G>A (p.Glu93=)
NM_005534.4(IFNGR2):c.333C>G (p.Val111=)
NM_005534.4(IFNGR2):c.337C>T (p.Leu113=)	rs121913200
NM_005534.4(IFNGR2):c.345T>C (p.Leu115=)
NM_005534.4(IFNGR2):c.360A>G (p.Gly120=)
NM_005534.4(IFNGR2):c.39C>T (p.Leu13=)
NM_005534.4(IFNGR2):c.412+10C>T
NM_005534.4(IFNGR2):c.412+15G>A
NM_005534.4(IFNGR2):c.413-15G>C
NM_005534.4(IFNGR2):c.413-18T>C
NM_005534.4(IFNGR2):c.413-9C>A
NM_005534.4(IFNGR2):c.420C>T (p.Val140=)
NM_005534.4(IFNGR2):c.45C>G (p.Val15=)	rs2123322539
NM_005534.4(IFNGR2):c.465C>T (p.Leu155=)	rs2083842693
NM_005534.4(IFNGR2):c.48C>T (p.Phe16=)
NM_005534.4(IFNGR2):c.507C>T (p.Ser169=)
NM_005534.4(IFNGR2):c.543A>G (p.Glu181=)
NM_005534.4(IFNGR2):c.561+18T>C
NM_005534.4(IFNGR2):c.561+6A>C
NM_005534.4(IFNGR2):c.684T>C (p.His228=)	rs1601092026
NM_005534.4(IFNGR2):c.721+10A>G
NM_005534.4(IFNGR2):c.722-10C>T
NM_005534.4(IFNGR2):c.73+10del
NM_005534.4(IFNGR2):c.73+7C>T
NM_005534.4(IFNGR2):c.73+8G>A	rs767210895
NM_005534.4(IFNGR2):c.73+9G>A
NM_005534.4(IFNGR2):c.73+9G>C
NM_005534.4(IFNGR2):c.74-7C>G
NM_005534.4(IFNGR2):c.74-7C>T	rs762306543
NM_005534.4(IFNGR2):c.74-8C>T
NM_005534.4(IFNGR2):c.768T>C (p.Phe256=)
NM_005534.4(IFNGR2):c.780G>C (p.Ser260=)	rs121913217
NM_005534.4(IFNGR2):c.786G>A (p.Leu262=)
NM_005534.4(IFNGR2):c.805C>T (p.Leu269=)
NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)
NM_005534.4(IFNGR2):c.828G>A (p.Leu276=)
NM_005534.4(IFNGR2):c.849T>C (p.Thr283=)
NM_005534.4(IFNGR2):c.879+17C>G	rs1386597042
NM_005534.4(IFNGR2):c.879+18_879+19insTT	rs201322939
NM_005534.4(IFNGR2):c.879+19_879+21del	rs753453319
NM_005534.4(IFNGR2):c.880-6_880-4del
NM_005534.4(IFNGR2):c.918G>A (p.Leu306=)
NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)
NM_005534.4(IFNGR2):c.9G>A (p.Pro3=)	rs762420616

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