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

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Total variants: 14

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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.272+1G>C	rs2077030784
NM_001367916.1(MAGT1):c.348dup (p.Ala117fs)	rs1569548146
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.507G>A (p.Trp169Ter)	rs2149018410
NM_001367916.1(MAGT1):c.607_610del (p.Val203fs)
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.751_752dup (p.Gly252fs)
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)	rs1569547876
NM_001367916.1(MAGT1):c.909T>A (p.Cys303Ter)	rs2149008270

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