ClinVar Miner

List of variants reported as benign for Immunodeficiency 28

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Total variants: 20
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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 0.01141
NM_005534.4(IFNGR2):c.544A>G (p.Lys182Glu) rs17878711 0.01107
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu) rs121913208 0.00206
NM_005534.4(IFNGR2):c.978G>A (p.Pro326=) rs17885407 0.00181
NM_005534.4(IFNGR2):c.984G>A (p.Lys328=) rs121913220 0.00141
NM_005534.4(IFNGR2):c.439G>A (p.Glu147Lys) rs17878639 0.00115
NM_005534.4(IFNGR2):c.73+16G>A rs571968917 0.00112
NM_005534.4(IFNGR2):c.879+19del rs193922682 0.00070
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.74-6dup
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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