ClinVar Miner

List of variants reported as uncertain significance 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: 36
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HGVS dbSNP gnomAD frequency
NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=) rs41288979 0.00151
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.*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.596A>G (p.Gln199Arg) rs886061128
NM_000416.3(IFNGR1):c.643G>A (p.Val215Ile) rs1779346306

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