ClinVar Miner

List of variants in gene IFNGR1 reported as not provided by Human Evolutionary Genetics, Institut Pasteur

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000416.2(IFNGR1):c.-255C>T rs121913171 0.00807
NM_000416.3(IFNGR1):c.86-76C>T rs121913174 0.00322
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg) rs137854904 0.00142
NM_000416.3(IFNGR1):c.547-131C>T rs121913178 0.00104
NM_000416.3(IFNGR1):c.*140G>A rs121913189 0.00056
NM_000416.3(IFNGR1):c.*450C>T rs121913191 0.00046
NM_000416.3(IFNGR1):c.1027G>A (p.Val343Met) rs121913185 0.00034
NM_000416.3(IFNGR1):c.373+116T>C rs121913175 0.00034
NM_000416.3(IFNGR1):c.864C>G (p.Ile288Met) rs121913184 0.00014
NM_000416.3(IFNGR1):c.1034A>G (p.His345Arg) rs121913186 0.00007
NM_000416.3(IFNGR1):c.547-104A>G rs121913179 0.00001
NM_000416.3(IFNGR1):c.85+18A>C rs121913173 0.00001
NM_000416.3(IFNGR1):c.*313del rs121913190
NM_000416.3(IFNGR1):c.1204_1230dup (p.Cys402_Asn410dup) rs137854905
NM_000416.3(IFNGR1):c.1268G>A (p.Ser423Asn) rs121913188
NM_000416.3(IFNGR1):c.373+305dup rs121913176
NM_000416.3(IFNGR1):c.5C>T (p.Ala2Val) rs121913172
NM_000416.3(IFNGR1):c.734-343C>A rs121913181
NM_000416.3(IFNGR1):c.861+42T>G rs121913183

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