ClinVar Miner

List of variants studied for autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000416.2(IFNGR1):c.665A>G (p.His222Arg) rs768805562
NM_000416.2(IFNGR1):c.794del (p.Phe265fs) rs587776860
NM_000416.2(IFNGR1):c.819_822del (p.Asn274fs) rs587776856
NM_000416.2(IFNGR1):c.819del (p.Asn274fs) rs587776859

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