ClinVar Miner

List of variants studied for Hyper-IgM syndrome type 2

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Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_020661.4(AICDA):c.*89A>C rs11046349 0.23977
NM_020661.4(AICDA):c.*309T>C rs12307097 0.11052
NM_020661.4(AICDA):c.*1028C>T rs7304723 0.09017
NM_020661.4(AICDA):c.*1137A>G rs867594346 0.05656
NM_020661.4(AICDA):c.*1297G>A rs140765460 0.03904
NM_020661.4(AICDA):c.*1136A>G rs371020938 0.03107
NM_020661.4(AICDA):c.*1694A>G rs75351379 0.02262
NM_020661.4(AICDA):c.*1666G>T rs115523544 0.01479
NM_020661.4(AICDA):c.*1206C>T rs147762245 0.01472
NM_020661.4(AICDA):c.*718C>A rs74372815 0.01333
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_020661.4(AICDA):c.*1139A>G rs773190855 0.00330
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_020661.4(AICDA):c.*446G>A rs104894982 0.00275
NM_020661.4(AICDA):c.428-18C>T rs201393772 0.00235
NM_020661.4(AICDA):c.369C>T (p.Pro123=) rs199980715 0.00171
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala) rs201210527 0.00138
NM_020661.4(AICDA):c.427+4C>T rs201180477 0.00130
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_020661.4(AICDA):c.*1089C>T rs141460280 0.00097
NM_020661.4(AICDA):c.*67C>T rs149095678 0.00081
NM_020661.4(AICDA):c.*958A>G rs184392902 0.00053
NM_020661.4(AICDA):c.*1213A>G rs751259274 0.00045
NM_020661.4(AICDA):c.379C>A (p.Arg127=) rs141451637 0.00038
NM_020661.4(AICDA):c.*235C>G rs112610523 0.00037
NM_020661.4(AICDA):c.*625T>C rs112850229 0.00036
NM_020661.4(AICDA):c.*1934C>T rs104894981 0.00035
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_020661.4(AICDA):c.157-18T>C rs200864445 0.00029
NM_020661.4(AICDA):c.189C>G (p.Arg63=) rs376176415 0.00028
NM_020661.4(AICDA):c.*1662C>A rs527675973 0.00022
NM_020661.4(AICDA):c.150C>A (p.Arg50=) rs376807304 0.00021
NM_020661.4(AICDA):c.*1704C>T rs557005026 0.00020
NM_020661.4(AICDA):c.416T>C (p.Met139Thr) rs200858797 0.00019
NM_020661.4(AICDA):c.*1173C>T rs192088951 0.00017
NM_020661.4(AICDA):c.*554T>C rs886049874 0.00016
NM_020661.4(AICDA):c.*771T>A rs1189292106 0.00014
NM_020661.4(AICDA):c.*670A>T rs886049873 0.00013
NM_020661.4(AICDA):c.456A>G (p.Val152=) rs1263897145 0.00010
NM_020661.4(AICDA):c.427+18G>A rs377743394 0.00008
NM_020661.4(AICDA):c.8+20G>A rs201036091 0.00007
NM_020661.4(AICDA):c.*1010C>T rs1018192148 0.00006
NM_020661.4(AICDA):c.457G>C (p.Glu153Gln) rs1206955819 0.00006
NM_020661.4(AICDA):c.*1296C>T rs748400078 0.00004
NM_020661.4(AICDA):c.*1684T>C rs1026369274 0.00004
NM_020661.4(AICDA):c.22C>T (p.Arg8Trp) rs763540826 0.00004
NM_020661.4(AICDA):c.576A>C (p.Ala192=) rs768358556 0.00004
NM_020661.4(AICDA):c.23G>A (p.Arg8Gln) rs773903008 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_020661.4(AICDA):c.418A>G (p.Thr140Ala) rs375684823 0.00003
NM_020661.4(AICDA):c.195C>T (p.Ile65=) rs371803016 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_020661.4(AICDA):c.336C>T (p.Arg112=) rs371372384 0.00002
NM_020661.4(AICDA):c.376C>T (p.Leu126=) rs999930122 0.00002
NM_020661.4(AICDA):c.408A>G (p.Ile136Met) rs887002786 0.00002
NM_020661.4(AICDA):c.569G>A (p.Arg190Gln) rs747680644 0.00002
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln) rs886923939 0.00002
NM_020661.4(AICDA):c.*1025G>A rs1941216576 0.00001
NM_020661.4(AICDA):c.-87A>T rs1941389378 0.00001
NM_020661.4(AICDA):c.106C>T (p.Arg36Cys) rs200228627 0.00001
NM_020661.4(AICDA):c.148C>T (p.Arg50Cys) rs370700027 0.00001
NM_020661.4(AICDA):c.156+11A>C rs991275648 0.00001
NM_020661.4(AICDA):c.156+15C>T rs773928055 0.00001
NM_020661.4(AICDA):c.15G>A (p.Leu5=) rs1484825115 0.00001
NM_020661.4(AICDA):c.190T>C (p.Tyr64His) rs944982893 0.00001
NM_020661.4(AICDA):c.21C>A (p.Asn7Lys) rs901889062 0.00001
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg) rs762590894 0.00001
NM_020661.4(AICDA):c.276A>G (p.Arg92=) rs748622128 0.00001
NM_020661.4(AICDA):c.284C>T (p.Ala95Val) rs780274954 0.00001
NM_020661.4(AICDA):c.29A>G (p.Lys10Arg) rs768249578 0.00001
NM_020661.4(AICDA):c.322A>C (p.Ile108Leu) rs368645130 0.00001
NM_020661.4(AICDA):c.329C>G (p.Thr110Ser) rs762487797 0.00001
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys) rs1057520542 0.00001
NM_020661.4(AICDA):c.355C>T (p.Arg119Cys) rs760513969 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter) rs104894323 0.00001
NM_020661.4(AICDA):c.468A>G (p.Glu156=) rs772651352 0.00001
NM_020661.4(AICDA):c.533G>C (p.Arg178Pro) rs1174012304 0.00001
NM_020661.4(AICDA):c.544-2A>G rs772388034 0.00001
NM_020661.4(AICDA):c.82T>C (p.Tyr28His) rs199697153 0.00001
NM_020661.4(AICDA):c.93C>T (p.Tyr31=) rs777729620 0.00001
NC_000012.11:g.(?_8756880)_(8765363_?)del
NC_000012.11:g.(?_8765336)_(8765363_?)del
NC_000012.11:g.(?_8765336)_(8765383_?)dup
NC_000012.12:g.(?_8456112)_(8612767_?)del
NC_000012.12:g.(?_8604264)_(8612787_?)del
NM_020661.4(AICDA):c.*1083T>C rs886049870
NM_020661.4(AICDA):c.*1106A>G rs886049869
NM_020661.4(AICDA):c.*1138A>G rs7138990
NM_020661.4(AICDA):c.*1226A>C rs887527114
NM_020661.4(AICDA):c.*1262C>T rs886049868
NM_020661.4(AICDA):c.*1313G>C rs1941208167
NM_020661.4(AICDA):c.*1380A>G rs1286233476
NM_020661.4(AICDA):c.*1453A>G rs1188858698
NM_020661.4(AICDA):c.*1455G>A rs187473552
NM_020661.4(AICDA):c.*1802T>C rs1941199404
NM_020661.4(AICDA):c.*288C>T rs886049875
NM_020661.4(AICDA):c.*38T>C rs115089086
NM_020661.4(AICDA):c.*38T>G rs115089086
NM_020661.4(AICDA):c.*470C>G rs190321240
NM_020661.4(AICDA):c.*556T>G rs3205190
NM_020661.4(AICDA):c.*804A>T rs886049872
NM_020661.4(AICDA):c.*837A>G rs886049871
NM_020661.4(AICDA):c.110_115del (p.Asp37_Ser38del) rs1181609421
NM_020661.4(AICDA):c.127T>A (p.Ser43Thr) rs1941294885
NM_020661.4(AICDA):c.128C>T (p.Ser43Leu)
NM_020661.4(AICDA):c.133G>A (p.Asp45Asn)
NM_020661.4(AICDA):c.135C>T (p.Asp45=)
NM_020661.4(AICDA):c.13T>C (p.Leu5=) rs2136433390
NM_020661.4(AICDA):c.157-11T>C
NM_020661.4(AICDA):c.157-19G>A
NM_020661.4(AICDA):c.157-5T>C
NM_020661.4(AICDA):c.160G>C (p.Gly54Arg) rs1565509771
NM_020661.4(AICDA):c.168C>T (p.His56=)
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_020661.4(AICDA):c.175T>C (p.Leu59=)
NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe) rs387906329
NM_020661.4(AICDA):c.178C>T (p.Leu60Phe)
NM_020661.4(AICDA):c.181T>C (p.Phe61Leu)
NM_020661.4(AICDA):c.197C>T (p.Ser66Leu) rs1941270570
NM_020661.4(AICDA):c.201C>A (p.Asp67Glu)
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter) rs104894325
NM_020661.4(AICDA):c.208C>G (p.Leu70Val) rs929345572
NM_020661.4(AICDA):c.220C>T (p.Arg74Cys)
NM_020661.4(AICDA):c.22_40del (p.Arg8fs) rs387906328
NM_020661.4(AICDA):c.230G>A (p.Arg77His) rs1941269563
NM_020661.4(AICDA):c.231C>T (p.Arg77=)
NM_020661.4(AICDA):c.232G>C (p.Val78Leu)
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg) rs104894320
NM_020661.4(AICDA):c.257C>T (p.Pro86Leu) rs2136431944
NM_020661.4(AICDA):c.258C>G (p.Pro86=)
NM_020661.4(AICDA):c.259T>G (p.Cys87Gly)
NM_020661.4(AICDA):c.271G>A (p.Ala91Thr)
NM_020661.4(AICDA):c.274C>A (p.Arg92=)
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250
NM_020661.4(AICDA):c.278A>G (p.His93Arg) rs1941268089
NM_020661.4(AICDA):c.27G>A (p.Arg9=)
NM_020661.4(AICDA):c.281T>C (p.Val94Ala) rs2136431874
NM_020661.4(AICDA):c.283G>A (p.Ala95Thr)
NM_020661.4(AICDA):c.283_284delinsTT (p.Ala95Phe) rs2136431862
NM_020661.4(AICDA):c.284C>G (p.Ala95Gly)
NM_020661.4(AICDA):c.289T>C (p.Phe97Leu)
NM_020661.4(AICDA):c.289T>G (p.Phe97Val) rs1591744388
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)
NM_020661.4(AICDA):c.305C>T (p.Pro102Leu) rs1565509610
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro) rs104894321
NM_020661.4(AICDA):c.329C>T (p.Thr110Ile)
NM_020661.4(AICDA):c.333G>A (p.Ala111=)
NM_020661.4(AICDA):c.338T>C (p.Leu113Pro) rs1268237441
NM_020661.4(AICDA):c.348T>C (p.Cys116=)
NM_020661.4(AICDA):c.352G>A (p.Asp118Asn)
NM_020661.4(AICDA):c.353A>C (p.Asp118Ala) rs1941266008
NM_020661.4(AICDA):c.356G>A (p.Arg119His)
NM_020661.4(AICDA):c.368C>T (p.Pro123Leu) rs1941265632
NM_020661.4(AICDA):c.370G>A (p.Glu124Lys)
NM_020661.4(AICDA):c.375G>T (p.Gly125=)
NM_020661.4(AICDA):c.379C>T (p.Arg127Trp)
NM_020661.4(AICDA):c.391C>T (p.Arg131Cys) rs761363877
NM_020661.4(AICDA):c.398G>T (p.Gly133Val)
NM_020661.4(AICDA):c.399G>C (p.Gly133=) rs370650216
NM_020661.4(AICDA):c.400G>A (p.Val134Met)
NM_020661.4(AICDA):c.402G>A (p.Val134=)
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.405A>G (p.Gln135=) rs104894983
NM_020661.4(AICDA):c.406A>G (p.Ile136Val)
NM_020661.4(AICDA):c.407T>C (p.Ile136Thr)
NM_020661.4(AICDA):c.415A>G (p.Met139Val) rs104894322
NM_020661.4(AICDA):c.417G>T (p.Met139Ile) rs1591744217
NM_020661.4(AICDA):c.422T>A (p.Phe141Tyr)
NM_020661.4(AICDA):c.427+11G>A
NM_020661.4(AICDA):c.427+19C>T
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.427+6A>C rs1318694006
NM_020661.4(AICDA):c.427+8A>G rs200505101
NM_020661.4(AICDA):c.427G>T (p.Asp143Tyr) rs1185119035
NM_020661.4(AICDA):c.428-10_428-5del rs5796316
NM_020661.4(AICDA):c.428-17_428-16dup rs5796316
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_020661.4(AICDA):c.428-18_428-17insCT rs1555130040
NM_020661.4(AICDA):c.428-18_428-17insCTT
NM_020661.4(AICDA):c.428-18dup rs397718057
NM_020661.4(AICDA):c.428-19C>T rs767408983
NM_020661.4(AICDA):c.428-5del rs5796316
NM_020661.4(AICDA):c.428-9_428-8insTC rs1941254624
NM_020661.4(AICDA):c.428A>T (p.Asp143Val) rs1185838920
NM_020661.4(AICDA):c.43T>C (p.Phe15Leu) rs2136433362
NM_020661.4(AICDA):c.452T>C (p.Phe151Ser) rs104894327
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_020661.4(AICDA):c.464_465inv (p.His155Arg)
NM_020661.4(AICDA):c.465C>A (p.His155Gln)
NM_020661.4(AICDA):c.470G>T (p.Arg157Ile)
NM_020661.4(AICDA):c.483C>T (p.Ala161=) rs2136431065
NM_020661.4(AICDA):c.496C>T (p.His166Tyr)
NM_020661.4(AICDA):c.511C>G (p.Arg171Gly)
NM_020661.4(AICDA):c.511C>T (p.Arg171Cys)
NM_020661.4(AICDA):c.517T>G (p.Ser173Ala)
NM_020661.4(AICDA):c.544-3C>T rs1941237276
NM_020661.4(AICDA):c.544-4A>G
NM_020661.4(AICDA):c.549G>T (p.Leu183=) rs2136430592
NM_020661.4(AICDA):c.552T>A (p.Tyr184Ter) rs1591743505
NM_020661.4(AICDA):c.554A>C (p.Glu185Ala) rs1941236723
NM_020661.4(AICDA):c.557T>C (p.Val186Ala) rs1227243694
NM_020661.4(AICDA):c.566T>G (p.Leu189Ter)
NM_020661.4(AICDA):c.568C>G (p.Arg190Gly) rs769399833
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.572A>T (p.Asp191Val)
NM_020661.4(AICDA):c.573C>T (p.Asp191=)
NM_020661.4(AICDA):c.574G>A (p.Ala192Thr) rs2136430559
NM_020661.4(AICDA):c.595T>A (p.Ter199Arg)
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324
NM_020661.4(AICDA):c.73C>T (p.Arg25Cys)
NM_020661.4(AICDA):c.75T>C (p.Arg25=)
NM_020661.4(AICDA):c.8+12G>T
NM_020661.4(AICDA):c.8+14C>T rs2136438654
NM_020661.4(AICDA):c.8+19C>T
NM_020661.4(AICDA):c.8+1G>C
NM_020661.4(AICDA):c.8+20G>C rs201036091
NM_020661.4(AICDA):c.81C>T (p.Thr27=)
NM_020661.4(AICDA):c.9-13_9-11del
NM_020661.4(AICDA):c.9-9C>T
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)
NM_020661.4(AICDA):c.94G>A (p.Val32Ile)

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