ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_001367916.1(MAGT1):c.673-16T>C rs140957691 0.03076
NM_001367916.1(MAGT1):c.651T>A (p.Thr217=) rs61732679 0.01635
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) rs145245774 0.00119
NM_001367916.1(MAGT1):c.-16A>G rs191382595 0.00077
NM_032121.5(MAGT1):c.67G>A (p.Val23Ile) rs182757967 0.00049
NM_001367916.1(MAGT1):c.17G>C (p.Arg6Pro) rs137932369 0.00041
NM_032121.5(MAGT1):c.3G>A (p.Met1Ile) rs185325713 0.00039
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.103-17C>T rs782234408 0.00024
NM_001367916.1(MAGT1):c.532-12C>G rs781848524 0.00015
NM_001367916.1(MAGT1):c.511G>A (p.Ala171Thr) rs141774769 0.00014
NM_001367916.1(MAGT1):c.207G>A (p.Pro69=) rs782428049 0.00012
NM_032121.5(MAGT1):c.58C>T (p.Arg20Trp) rs370329684 0.00012
NM_001367916.1(MAGT1):c.391-12G>A rs782752973 0.00010
NM_001367916.1(MAGT1):c.-14G>A rs374235131 0.00009
NM_001367916.1(MAGT1):c.192T>C (p.Leu64=) rs189513206 0.00008
NM_001367916.1(MAGT1):c.763-14T>G rs782170645 0.00008
NM_001367916.1(MAGT1):c.880A>G (p.Met294Val) rs374143885 0.00008
NM_001367916.1(MAGT1):c.273-5T>C rs371338746 0.00007
NM_001367916.1(MAGT1):c.390+6A>G rs782066955 0.00007
NM_001367916.1(MAGT1):c.449G>A (p.Arg150Gln) rs1032635187 0.00007
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.272+13A>G rs782567093 0.00004
NM_032121.5(MAGT1):c.31T>G (p.Phe11Val) rs913458526 0.00004
NM_001367916.1(MAGT1):c.32C>G (p.Ser11Cys) rs150310078 0.00003
NM_001367916.1(MAGT1):c.342A>T (p.Ile114=) rs368934480 0.00003
NM_001367916.1(MAGT1):c.10C>T (p.Arg4Cys) rs782261030 0.00002
NM_001367916.1(MAGT1):c.219C>T (p.Ser73=) rs183592456 0.00002
NM_001367916.1(MAGT1):c.265G>A (p.Val89Ile) rs782335487 0.00002
NM_001367916.1(MAGT1):c.272+18G>A rs782342148 0.00002
NM_001367916.1(MAGT1):c.272+8C>T rs373819700 0.00002
NM_001367916.1(MAGT1):c.672+19A>G rs549144446 0.00002
NM_001367916.1(MAGT1):c.753G>A (p.Thr251=) rs374493047 0.00002
NM_001367916.1(MAGT1):c.771C>T (p.Ile257=) rs782533209 0.00002
NM_032121.5(MAGT1):c.27C>T (p.Cys9=) rs782341239 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.154C>T (p.Pro52Ser) rs1402080033 0.00001
NM_001367916.1(MAGT1):c.160A>G (p.Ile54Val) rs369665000 0.00001
NM_001367916.1(MAGT1):c.39C>T (p.Thr13=) rs1232485204 0.00001
NM_001367916.1(MAGT1):c.478G>A (p.Gly160Ser) rs1557216098 0.00001
NM_001367916.1(MAGT1):c.510C>T (p.Ile170=) rs1387470785 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
NM_001367916.1(MAGT1):c.870T>C (p.Ala290=) rs1557214380 0.00001
NC_000023.10:g.(?_76763829)_(77381327_?)dup
NC_000023.10:g.(?_76972588)_(77084752_?)dup
NC_000023.10:g.(?_77084697)_(77131114_?)del
NC_000023.10:g.(?_77084697)_(77131114_?)dup
NC_000023.10:g.(?_77084697)_(77264780_?)dup
NC_000023.10:g.(?_77084697)_(77268629_?)del
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.-13G>A
NM_001367916.1(MAGT1):c.-1C>T
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.102+8C>T
NM_001367916.1(MAGT1):c.103-16A>G
NM_001367916.1(MAGT1):c.103-19C>G
NM_001367916.1(MAGT1):c.127C>T (p.Gln43Ter) rs1557217723
NM_001367916.1(MAGT1):c.133A>T (p.Met45Leu)
NM_001367916.1(MAGT1):c.148A>G (p.Lys50Glu) rs2077031173
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.184C>T (p.Arg62Cys)
NM_001367916.1(MAGT1):c.185G>A (p.Arg62His)
NM_001367916.1(MAGT1):c.18G>T (p.Arg6=)
NM_001367916.1(MAGT1):c.1A>G (p.Met1Val)
NM_001367916.1(MAGT1):c.216C>T (p.Tyr72=)
NM_001367916.1(MAGT1):c.220G>A (p.Val74Ile)
NM_001367916.1(MAGT1):c.224T>C (p.Ile75Thr)
NM_001367916.1(MAGT1):c.272+17C>T
NM_001367916.1(MAGT1):c.272+1G>C rs2077030784
NM_001367916.1(MAGT1):c.273-18G>A
NM_001367916.1(MAGT1):c.273-18G>T
NM_001367916.1(MAGT1):c.279T>C (p.Ala93=)
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
NM_001367916.1(MAGT1):c.341T>C (p.Ile114Thr) rs2149023680
NM_001367916.1(MAGT1):c.348dup (p.Ala117fs) rs1569548146
NM_001367916.1(MAGT1):c.379G>A (p.Val127Ile)
NM_001367916.1(MAGT1):c.387G>A (p.Gln129=)
NM_001367916.1(MAGT1):c.391-12G>C rs782752973
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.399del (p.Met133fs) rs1603361811
NM_001367916.1(MAGT1):c.405A>G (p.Ser135=)
NM_001367916.1(MAGT1):c.411A>G (p.Pro137=)
NM_001367916.1(MAGT1):c.416T>A (p.Phe139Tyr)
NM_001367916.1(MAGT1):c.426T>C (p.Phe142=)
NM_001367916.1(MAGT1):c.45G>A (p.Val15=)
NM_001367916.1(MAGT1):c.462T>A (p.Tyr154Ter)
NM_001367916.1(MAGT1):c.476G>A (p.Arg159Gln)
NM_001367916.1(MAGT1):c.480T>C (p.Gly160=) rs1603361797
NM_001367916.1(MAGT1):c.484dup (p.Ser162fs) rs2149018434
NM_001367916.1(MAGT1):c.490G>T (p.Glu164Ter) rs2149018425
NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
NM_001367916.1(MAGT1):c.502C>T (p.Arg168Trp) rs372142118
NM_001367916.1(MAGT1):c.507G>A (p.Trp169Ter) rs2149018410
NM_001367916.1(MAGT1):c.513C>T (p.Ala171=)
NM_001367916.1(MAGT1):c.514G>A (p.Asp172Asn)
NM_001367916.1(MAGT1):c.530A>G (p.Asn177Ser)
NM_001367916.1(MAGT1):c.531+16A>T rs2149018390
NM_001367916.1(MAGT1):c.531+20A>C rs2149018388
NM_001367916.1(MAGT1):c.532-20T>G
NM_001367916.1(MAGT1):c.563G>T (p.Gly188Val)
NM_001367916.1(MAGT1):c.574T>C (p.Leu192=)
NM_001367916.1(MAGT1):c.607_610del (p.Val203fs)
NM_001367916.1(MAGT1):c.60C>T (p.Ile20=)
NM_001367916.1(MAGT1):c.628A>G (p.Met210Val)
NM_001367916.1(MAGT1):c.633A>G (p.Glu211=)
NM_001367916.1(MAGT1):c.641_642insGA (p.Phe214fs) rs1603361729
NM_001367916.1(MAGT1):c.644A>G (p.Asn215Ser) rs2149018211
NM_001367916.1(MAGT1):c.673-10T>C rs2076979441
NM_001367916.1(MAGT1):c.673-1G>A rs2149017840
NM_001367916.1(MAGT1):c.676_680del (p.Phe226fs) rs1603361606
NM_001367916.1(MAGT1):c.695C>A (p.Ser232Tyr) rs2149017832
NM_001367916.1(MAGT1):c.702A>G (p.Gln234=)
NM_001367916.1(MAGT1):c.736C>T (p.His246Tyr) rs2076979344
NM_001367916.1(MAGT1):c.751_752dup (p.Gly252fs)
NM_001367916.1(MAGT1):c.755G>A (p.Gly252Glu)
NM_001367916.1(MAGT1):c.756A>G (p.Gly252=)
NM_001367916.1(MAGT1):c.762+16G>A
NM_001367916.1(MAGT1):c.762+1G>A
NM_001367916.1(MAGT1):c.763-18_763-17del
NM_001367916.1(MAGT1):c.764A>G (p.Asn255Ser)
NM_001367916.1(MAGT1):c.771C>A (p.Ile257=) rs782533209
NM_001367916.1(MAGT1):c.780C>A (p.Ser260Arg)
NM_001367916.1(MAGT1):c.7G>A (p.Ala3Thr)
NM_001367916.1(MAGT1):c.816T>C (p.Val272=)
NM_001367916.1(MAGT1):c.825T>C (p.Phe275=)
NM_001367916.1(MAGT1):c.826+18G>A
NM_001367916.1(MAGT1):c.827-16A>G
NM_001367916.1(MAGT1):c.827-1_838del rs1603359848
NM_001367916.1(MAGT1):c.827-7T>G rs782176437
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.888T>C (p.Ile296=)
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter) rs1569547876
NM_001367916.1(MAGT1):c.896G>A (p.Arg299Gln)
NM_001367916.1(MAGT1):c.901+11T>G
NM_001367916.1(MAGT1):c.901+8A>G
NM_001367916.1(MAGT1):c.902-6C>G rs2149008276
NM_001367916.1(MAGT1):c.904A>G (p.Met302Val)
NM_001367916.1(MAGT1):c.909T>A (p.Cys303Ter) rs2149008270
NM_001367916.1(MAGT1):c.927TGT[1] (p.Val311del) rs2076895612
NM_001367916.1(MAGT1):c.945T>C (p.Ser315=)
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.44C>T (p.Thr15Ile)
NM_032121.5(MAGT1):c.56G>T (p.Ser19Ile) rs2077096393
NM_032121.5(MAGT1):c.58C>A (p.Arg20=) rs370329684
NM_032121.5(MAGT1):c.64A>C (p.Lys22Gln)
NM_032121.5(MAGT1):c.65_66del (p.Lys22fs) rs782474570
NM_032121.5(MAGT1):c.71C>A (p.Ser24Ter) rs372603691

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