ClinVar Miner

List of variants studied for Hyper-IgM syndrome type 2 by Illumina Laboratory Services, Illumina

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Total variants: 56
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HGVS dbSNP gnomAD frequency
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.*1139A>G rs773190855 0.00330
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
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.*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.*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_020661.4(AICDA):c.*1662C>A rs527675973 0.00022
NM_020661.4(AICDA):c.*1704C>T rs557005026 0.00020
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.*1296C>T rs748400078 0.00004
NM_020661.4(AICDA):c.*1684T>C rs1026369274 0.00004
NM_020661.4(AICDA):c.376C>T (p.Leu126=) rs999930122 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.29A>G (p.Lys10Arg) rs768249578 0.00001
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

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