ClinVar Miner

List of variants in gene LOC130068460, MAGT1 studied for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001367916.1(MAGT1):c.-16A>G rs191382595 0.00077
NM_001367916.1(MAGT1):c.17G>C (p.Arg6Pro) rs137932369 0.00041
NM_001367916.1(MAGT1):c.89A>G (p.Gln30Arg) rs151126473 0.00029
NM_001367916.1(MAGT1):c.40A>G (p.Met14Val) rs782145425 0.00028
NM_001367916.1(MAGT1):c.-14G>A rs374235131 0.00009
NM_001367916.1(MAGT1):c.-5C>T rs199604767 0.00005
NM_001367916.1(MAGT1):c.-20T>C rs781800228 0.00004
NM_001367916.1(MAGT1):c.32C>G (p.Ser11Cys) rs150310078 0.00003
NM_001367916.1(MAGT1):c.10C>T (p.Arg4Cys) rs782261030 0.00002
NM_001367916.1(MAGT1):c.-10A>G rs1171559934 0.00001
NM_001367916.1(MAGT1):c.-3A>G rs781882781 0.00001
NM_001367916.1(MAGT1):c.-4G>A rs782787445 0.00001
NM_001367916.1(MAGT1):c.-9G>A rs868929451 0.00001
NM_001367916.1(MAGT1):c.102+12G>A rs782095247 0.00001
NM_001367916.1(MAGT1):c.39C>T (p.Thr13=) rs1232485204 0.00001
NM_001367916.1(MAGT1):c.-10A>T rs1171559934
NM_001367916.1(MAGT1):c.-13G>A
NM_001367916.1(MAGT1):c.-1C>T
NM_001367916.1(MAGT1):c.-21A>G
NM_001367916.1(MAGT1):c.-2A>T
NM_001367916.1(MAGT1):c.-2dup rs2149031468
NM_001367916.1(MAGT1):c.-5C>G rs199604767
NM_001367916.1(MAGT1):c.102+8C>T
NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter) rs200934080
NM_001367916.1(MAGT1):c.16C>A (p.Arg6=)
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001367916.1(MAGT1):c.17G>A (p.Arg6Gln)
NM_001367916.1(MAGT1):c.18G>T (p.Arg6=)
NM_001367916.1(MAGT1):c.1A>G (p.Met1Val)
NM_001367916.1(MAGT1):c.45G>A (p.Val15=)
NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
NM_001367916.1(MAGT1):c.60C>T (p.Ile20=)
NM_001367916.1(MAGT1):c.7G>A (p.Ala3Thr)
NM_001367916.1(MAGT1):c.85G>C (p.Ala29Pro)

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