ClinVar Miner

List of variants reported as benign for Immunodeficiency 27A

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000416.3(IFNGR1):c.-56T>C rs2234711 0.42896
NM_000416.3(IFNGR1):c.85+10T>C rs7749390 0.40552
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=) rs11914 0.12380
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.11978
NM_000416.3(IFNGR1):c.862-4A>G rs3799488 0.09455
NM_000416.2(IFNGR1):c.-72C>T rs17181457 0.05060
NM_000416.3(IFNGR1):c.*206A>G rs1887416 0.01728
NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro) rs1887415 0.01172
NM_000416.3(IFNGR1):c.*41G>A rs17181562 0.00826
NM_000416.3(IFNGR1):c.*217T>A rs1887417 0.00763
NM_000416.3(IFNGR1):c.42G>A (p.Val14=) rs17181471 0.00606
NM_005535.3(IL12RB1):c.783+10C>T rs79972275 0.00554
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro) rs17175350 0.00438
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg) rs137854904 0.00142
NM_000416.3(IFNGR1):c.48G>A (p.Arg16=) rs11575931 0.00038
NM_000416.3(IFNGR1):c.522G>A (p.Val174=) rs557217199 0.00033

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