ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter) rs200934080
NM_001367916.1(MAGT1):c.313C>T (p.Arg105Ter) rs387906724
NM_001367916.1(MAGT1):c.459dup (p.Tyr154fs) rs1603361804
NM_001367916.1(MAGT1):c.502del (p.Arg168fs) rs1603361795
NM_001367916.1(MAGT1):c.616C>T (p.Arg206Ter) rs879989957
NM_001367916.1(MAGT1):c.826_826+9del rs1603361427
NM_001367916.1(MAGT1):c.842T>G (p.Leu281Ter) rs1569547878

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