ClinVar Miner

List of variants in gene AICDA reported as uncertain significance for Hyper-IgM syndrome type 2

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.*1137A>G rs867594346 0.05656
NM_020661.4(AICDA):c.*1136A>G rs371020938 0.03107
NM_020661.4(AICDA):c.*446G>A rs104894982 0.00275
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.*67C>T rs149095678 0.00081
NM_020661.4(AICDA):c.*1213A>G rs751259274 0.00045
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.*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.*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.23G>A (p.Arg8Gln) rs773903008 0.00003
NM_020661.4(AICDA):c.418A>G (p.Thr140Ala) rs375684823 0.00003
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.*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.190T>C (p.Tyr64His) rs944982893 0.00001
NM_020661.4(AICDA):c.21C>A (p.Asn7Lys) rs901889062 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.355C>T (p.Arg119Cys) rs760513969 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.533G>C (p.Arg178Pro) rs1174012304 0.00001
NM_020661.4(AICDA):c.82T>C (p.Tyr28His) rs199697153 0.00001
NC_000012.11:g.(?_8765336)_(8765383_?)dup
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>G rs115089086
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.160G>C (p.Gly54Arg) rs1565509771
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.208C>G (p.Leu70Val) rs929345572
NM_020661.4(AICDA):c.220C>T (p.Arg74Cys)
NM_020661.4(AICDA):c.230G>A (p.Arg77His) rs1941269563
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.259T>G (p.Cys87Gly)
NM_020661.4(AICDA):c.271G>A (p.Ala91Thr)
NM_020661.4(AICDA):c.278A>G (p.His93Arg) rs1941268089
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.305C>T (p.Pro102Leu) rs1565509610
NM_020661.4(AICDA):c.329C>T (p.Thr110Ile)
NM_020661.4(AICDA):c.338T>C (p.Leu113Pro) rs1268237441
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.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.400G>A (p.Val134Met)
NM_020661.4(AICDA):c.406A>G (p.Ile136Val)
NM_020661.4(AICDA):c.407T>C (p.Ile136Thr)
NM_020661.4(AICDA):c.422T>A (p.Phe141Tyr)
NM_020661.4(AICDA):c.427+6A>C rs1318694006
NM_020661.4(AICDA):c.427G>T (p.Asp143Tyr) rs1185119035
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.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.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.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.572A>T (p.Asp191Val)
NM_020661.4(AICDA):c.574G>A (p.Ala192Thr) rs2136430559
NM_020661.4(AICDA):c.595T>A (p.Ter199Arg)
NM_020661.4(AICDA):c.73C>T (p.Arg25Cys)
NM_020661.4(AICDA):c.94G>A (p.Val32Ile)

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