ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001367916.1(MAGT1):c.-5C>T rs199604767 0.00005
NM_001367916.1(MAGT1):c.-20T>C rs781800228 0.00004
NM_032121.5(MAGT1):c.31T>G (p.Phe11Val) rs913458526 0.00004
NM_001367916.1(MAGT1):c.10C>T (p.Arg4Cys) rs782261030 0.00002
NM_001367916.1(MAGT1):c.265G>A (p.Val89Ile) rs782335487 0.00002
NM_001367916.1(MAGT1):c.-9G>A rs868929451 0.00001
NM_001367916.1(MAGT1):c.154C>T (p.Pro52Ser) rs1402080033 0.00001
NM_001367916.1(MAGT1):c.160A>G (p.Ile54Val) rs369665000 0.00001
NM_001367916.1(MAGT1):c.478G>A (p.Gly160Ser) rs1557216098 0.00001
NM_001367916.1(MAGT1):c.583C>T (p.Leu195Phe) rs782783057 0.00001
NM_001367916.1(MAGT1):c.595A>T (p.Ile199Phe) rs1191465689 0.00001
NM_001367916.1(MAGT1):c.596T>C (p.Ile199Thr) rs1426800096 0.00001
NM_001367916.1(MAGT1):c.604C>T (p.Leu202Phe) rs782090522 0.00001
NM_001367916.1(MAGT1):c.611A>G (p.Tyr204Cys) rs1557216034 0.00001
NM_001367916.1(MAGT1):c.763-10T>A rs1557215733 0.00001
NM_001367916.1(MAGT1):c.849G>A (p.Met283Ile) rs941882099 0.00001
NC_000023.10:g.(?_76763829)_(77381327_?)dup
NC_000023.10:g.(?_76972588)_(77084752_?)dup
NC_000023.10:g.(?_77084697)_(77131114_?)dup
NC_000023.10:g.(?_77084697)_(77264780_?)dup
NC_000023.10:g.(?_77084717)_(77086412_?)del
NC_000023.10:g.(?_77084717)_(77096837_?)del
NC_000023.10:g.(?_77084717)_(77131114_?)dup
NC_000023.10:g.(?_77086282)_(77086412_?)del
NC_000023.10:g.(?_77112834)_(77381327_?)dup
NC_000023.10:g.(?_77150786)_(77151023_?)dup
NC_000023.10:g.(?_77150786)_(77160758_?)dup
NM_001367916.1(MAGT1):c.-10A>T rs1171559934
NM_001367916.1(MAGT1):c.-21A>G
NM_001367916.1(MAGT1):c.-24C>G rs2077096166
NM_001367916.1(MAGT1):c.-2A>T
NM_001367916.1(MAGT1):c.-5C>G rs199604767
NM_001367916.1(MAGT1):c.133A>T (p.Met45Leu)
NM_001367916.1(MAGT1):c.148A>G (p.Lys50Glu) rs2077031173
NM_001367916.1(MAGT1):c.17G>A (p.Arg6Gln)
NM_001367916.1(MAGT1):c.184C>T (p.Arg62Cys)
NM_001367916.1(MAGT1):c.185G>A (p.Arg62His)
NM_001367916.1(MAGT1):c.1A>G (p.Met1Val)
NM_001367916.1(MAGT1):c.224T>C (p.Ile75Thr)
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
NM_001367916.1(MAGT1):c.318C>A (p.Tyr106Ter) rs2077018821
NM_001367916.1(MAGT1):c.341T>C (p.Ile114Thr) rs2149023680
NM_001367916.1(MAGT1):c.379G>A (p.Val127Ile)
NM_001367916.1(MAGT1):c.391-15C>T rs2149018483
NM_001367916.1(MAGT1):c.397A>T (p.Met133Leu) rs782043620
NM_001367916.1(MAGT1):c.399G>A (p.Met133Ile) rs2149018477
NM_001367916.1(MAGT1):c.416T>A (p.Phe139Tyr)
NM_001367916.1(MAGT1):c.431C>T (p.Ala144Val) rs2076984239
NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
NM_001367916.1(MAGT1):c.502C>T (p.Arg168Trp) rs372142118
NM_001367916.1(MAGT1):c.514G>A (p.Asp172Asn)
NM_001367916.1(MAGT1):c.563G>T (p.Gly188Val)
NM_001367916.1(MAGT1):c.628A>G (p.Met210Val)
NM_001367916.1(MAGT1):c.644A>G (p.Asn215Ser) rs2149018211
NM_001367916.1(MAGT1):c.695C>A (p.Ser232Tyr) rs2149017832
NM_001367916.1(MAGT1):c.736C>T (p.His246Tyr) rs2076979344
NM_001367916.1(MAGT1):c.755G>A (p.Gly252Glu)
NM_001367916.1(MAGT1):c.764A>G (p.Asn255Ser)
NM_001367916.1(MAGT1):c.780C>A (p.Ser260Arg)
NM_001367916.1(MAGT1):c.7G>A (p.Ala3Thr)
NM_001367916.1(MAGT1):c.825T>C (p.Phe275=)
NM_001367916.1(MAGT1):c.853C>T (p.Leu285Phe) rs2149012480
NM_001367916.1(MAGT1):c.85G>C (p.Ala29Pro)
NM_001367916.1(MAGT1):c.884A>T (p.Asp295Val)
NM_001367916.1(MAGT1):c.896G>A (p.Arg299Gln)
NM_001367916.1(MAGT1):c.902-6C>G rs2149008276
NM_001367916.1(MAGT1):c.904A>G (p.Met302Val)
NM_001367916.1(MAGT1):c.927TGT[1] (p.Val311del) rs2076895612
NM_001367916.1(MAGT1):c.949A>G (p.Met317Val)
NM_001367916.1(MAGT1):c.951G>T (p.Met317Ile)
NM_001367916.1(MAGT1):c.958A>G (p.Ile320Val) rs2076895484
NM_001367916.1(MAGT1):c.977A>G (p.His326Arg)
NM_001367916.1(MAGT1):c.992+1G>A rs1557213306
NM_001367916.1(MAGT1):c.992+3A>G rs2149008230
NM_032121.5(MAGT1):c.11G>A (p.Gly4Asp)
NM_032121.5(MAGT1):c.20C>T (p.Pro7Leu)
NM_032121.5(MAGT1):c.26G>A (p.Cys9Tyr)
NM_032121.5(MAGT1):c.3G>C (p.Met1Ile) rs185325713
NM_032121.5(MAGT1):c.56G>T (p.Ser19Ile) rs2077096393
NM_032121.5(MAGT1):c.64A>C (p.Lys22Gln)
NM_032121.5(MAGT1):c.71C>A (p.Ser24Ter) rs372603691

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