ClinVar Miner

List of variants studied for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000416.3(IFNGR1):c.-56T>C rs2234711 0.42896
NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=) rs11914 0.12487
NM_000416.3(IFNGR1):c.862-4A>G rs3799488 0.09069
NM_000416.2(IFNGR1):c.-72C>T rs17181457 0.05060
NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro) rs1887415 0.01172
NM_000416.3(IFNGR1):c.*71G>T rs55665036 0.00833
NM_000416.3(IFNGR1):c.*41G>A rs17181562 0.00826
NM_000416.3(IFNGR1):c.*206A>G rs1887416 0.00801
NM_000416.3(IFNGR1):c.*217T>A rs1887417 0.00763
NM_000416.3(IFNGR1):c.489C>T (p.Pro163=) rs41288981 0.00668
NM_000416.3(IFNGR1):c.42G>A (p.Val14=) rs17181471 0.00633
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro) rs17175350 0.00438
NM_000416.3(IFNGR1):c.181G>A (p.Val61Ile) rs17175322 0.00277
NM_000416.3(IFNGR1):c.*128G>T rs7769141 0.00213
NM_000416.3(IFNGR1):c.*462A>C rs7750706 0.00213
NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=) rs41288979 0.00151
NM_000416.3(IFNGR1):c.200+15T>G rs17175329 0.00143
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg) rs137854904 0.00142
NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=) rs149761943 0.00131
NM_000416.3(IFNGR1):c.*450C>T rs121913191 0.00046
NM_000416.3(IFNGR1):c.40G>A (p.Val14Met) rs11575936 0.00040
NM_000416.3(IFNGR1):c.48G>A (p.Arg16=) rs11575931 0.00038
NM_000416.3(IFNGR1):c.*297G>A rs886061126 0.00030
NM_000416.3(IFNGR1):c.236A>G (p.Asn79Ser) rs377227464 0.00026
NM_000416.3(IFNGR1):c.609G>A (p.Ala203=) rs201471898 0.00026
NM_000416.3(IFNGR1):c.*475G>A rs932155671 0.00014
NM_000416.3(IFNGR1):c.-21C>T rs377280992 0.00011
NM_000416.3(IFNGR1):c.589G>A (p.Glu197Lys) rs55666220 0.00009
NM_000416.3(IFNGR1):c.84A>G (p.Ser28=) rs201996266 0.00009
NM_000416.3(IFNGR1):c.588C>T (p.Asp196=) rs146420583 0.00008
NM_000416.3(IFNGR1):c.1034A>G (p.His345Arg) rs121913186 0.00007
NM_000416.2(IFNGR1):c.*547G>A rs760088818 0.00006
NM_000416.3(IFNGR1):c.*258C>T rs535912315 0.00006
NM_000416.3(IFNGR1):c.490G>A (p.Glu164Lys) rs146687518 0.00005
NM_000416.3(IFNGR1):c.664C>T (p.His222Tyr) rs148469894 0.00005
NM_000416.3(IFNGR1):c.694A>G (p.Lys232Glu) rs200848254 0.00004
NM_000416.3(IFNGR1):c.*487G>A rs976295951 0.00003
NM_000416.3(IFNGR1):c.790G>A (p.Val264Ile) rs372412638 0.00003
NM_000416.3(IFNGR1):c.1120A>G (p.Ile374Val) rs963564493 0.00002
NM_000416.3(IFNGR1):c.711C>T (p.Thr237=) rs886061127 0.00002
NM_000416.3(IFNGR1):c.*244T>C rs1391074618 0.00001
NM_000416.3(IFNGR1):c.*466A>G rs886061125 0.00001
NM_000416.3(IFNGR1):c.180C>T (p.Thr60=) rs760535699 0.00001
NM_000416.3(IFNGR1):c.368G>A (p.Arg123Gln) rs146914620 0.00001
NM_000416.3(IFNGR1):c.478G>A (p.Asp160Asn) rs774732146 0.00001
NM_000416.3(IFNGR1):c.655G>A (p.Gly219Arg) rs1311661488 0.00001
NM_000416.3(IFNGR1):c.729A>G (p.Ile243Met) rs376292228 0.00001
NM_000416.3(IFNGR1):c.-52G>T rs1779791941
NM_000416.3(IFNGR1):c.-57G>A rs1779792226
NM_000416.3(IFNGR1):c.1187C>T (p.Ser396Leu) rs747769538
NM_000416.3(IFNGR1):c.1252T>C (p.Cys418Arg) rs1259638841
NM_000416.3(IFNGR1):c.231C>T (p.Cys77=) rs1779425710
NM_000416.3(IFNGR1):c.423C>G (p.Ile141Met) rs1779380136
NM_000416.3(IFNGR1):c.522G>A (p.Val174=) rs557217199
NM_000416.3(IFNGR1):c.596A>G (p.Gln199Arg) rs886061128
NM_000416.3(IFNGR1):c.643G>A (p.Val215Ile) rs1779346306
NM_000416.3(IFNGR1):c.85+10T>C rs7749390

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