ClinVar Miner

List of variants reported as pathogenic for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_77084697)_(77268629_?)del
NM_001367916.1(MAGT1):c.127C>T (p.Gln43Ter) rs1557217723
NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter) rs200934080
NM_001367916.1(MAGT1):c.272+1G>C rs2077030784
NM_001367916.1(MAGT1):c.313C>T (p.Arg105Ter) rs387906724
NM_001367916.1(MAGT1):c.348dup (p.Ala117fs) rs1569548146
NM_001367916.1(MAGT1):c.459dup (p.Tyr154fs) rs1603361804
NM_001367916.1(MAGT1):c.462T>A (p.Tyr154Ter)
NM_001367916.1(MAGT1):c.484dup (p.Ser162fs) rs2149018434
NM_001367916.1(MAGT1):c.490G>T (p.Glu164Ter) rs2149018425
NM_001367916.1(MAGT1):c.502del (p.Arg168fs) rs1603361795
NM_001367916.1(MAGT1):c.507G>A (p.Trp169Ter) rs2149018410
NM_001367916.1(MAGT1):c.607_610del (p.Val203fs)
NM_001367916.1(MAGT1):c.616C>T (p.Arg206Ter) rs879989957
NM_001367916.1(MAGT1):c.641_642insGA (p.Phe214fs) rs1603361729
NM_001367916.1(MAGT1):c.676_680del (p.Phe226fs) rs1603361606
NM_001367916.1(MAGT1):c.678dup (p.Val227fs) rs2149017839
NM_001367916.1(MAGT1):c.707G>A (p.Trp236Ter) rs2149017828
NM_001367916.1(MAGT1):c.751_752dup (p.Gly252fs)
NM_001367916.1(MAGT1):c.826_826+9del rs1603361427
NM_001367916.1(MAGT1):c.842T>G (p.Leu281Ter) rs1569547878
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter) rs1569547876
NM_001367916.1(MAGT1):c.909T>A (p.Cys303Ter) rs2149008270
NM_001367916.1(MAGT1):c.948G>A (p.Trp316Ter) rs2076895533

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