ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.561+11C>G rs11910627 0.77154
NM_005534.4(IFNGR2):c.879+19C>T rs17883129 0.37206
NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) rs9808753 0.17239
NM_005534.4(IFNGR2):c.173C>G (p.Thr58Arg) rs4986958 0.04587
NM_005534.4(IFNGR2):c.721+7T>C rs41351148 0.01067
NM_005534.4(IFNGR2):c.544A>G (p.Lys182Glu) rs17878711 0.01027
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu) rs121913208 0.00206
NM_005534.4(IFNGR2):c.978G>A (p.Pro326=) rs17885407 0.00178
NM_005534.4(IFNGR2):c.984G>A (p.Lys328=) rs121913220 0.00129
NM_005534.4(IFNGR2):c.439G>A (p.Glu147Lys) rs17878639 0.00125
NM_005534.4(IFNGR2):c.73+16G>A rs571968917 0.00112
NM_005534.4(IFNGR2):c.879+19del rs193922682 0.00064
NM_005534.4(IFNGR2):c.231C>T (p.Ala77=) rs150137842 0.00029
NM_005534.4(IFNGR2):c.234C>T (p.Asp78=) rs138717312 0.00010
NM_005534.4(IFNGR2):c.722-3dup
NM_005534.4(IFNGR2):c.74-6dup rs2083742858
NM_005534.4(IFNGR2):c.879+18dup rs201322939
NM_005534.4(IFNGR2):c.879+19_879+20del rs750203174
NM_005534.4(IFNGR2):c.879+31_879+32dup rs143248516
NM_005534.4(IFNGR2):c.879+32del rs143248516
NM_005534.4(IFNGR2):c.879+32dup rs143248516

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