ClinVar Miner

List of variants studied for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys) rs387906593 0.00002
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr) rs104893973 0.00001
NM_000416.3(IFNGR1):c.104_107dup (p.Ile37fs) rs587776854
NM_000416.3(IFNGR1):c.131del (p.Pro44fs) rs587776853
NM_000416.3(IFNGR1):c.182T>A (p.Val61Glu) rs121912715
NM_000416.3(IFNGR1):c.200+1G>A rs587776855
NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr) rs104893974
NM_000416.3(IFNGR1):c.295_306del (p.Trp99_Val102del) rs587776857
NM_000416.3(IFNGR1):c.446C>A (p.Ser149Ter) rs387906572
NM_000416.3(IFNGR1):c.653_655del (p.Glu218del) rs587776858

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