ClinVar Miner

List of variants studied for agammaglobulinemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (45):
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ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807 0.00261
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) rs143780139 0.00213
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645 0.00121
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00067
NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp) rs143351602 0.00066
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171 0.00065
NM_001006658.3(CR2):c.2030C>T (p.Thr677Met) rs142648420 0.00056
NM_001006658.3(CR2):c.970C>T (p.Arg324Cys) rs147393483 0.00050
NM_001006658.3(CR2):c.3187C>T (p.Arg1063Cys) rs145499318 0.00042
NM_003200.5(TCF3):c.307G>A (p.Gly103Ser) rs201841190 0.00037
NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala) rs148388565 0.00036
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_001783.4(CD79A):c.224C>T (p.Thr75Met) rs199967393 0.00029
NM_001006658.3(CR2):c.1475A>G (p.Asn492Ser) rs142212472 0.00027
NM_001364905.1(LRBA):c.8318C>T (p.Ala2773Val) rs140288109 0.00026
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_012452.3(TNFRSF13B):c.145T>C (p.Ser49Pro) rs374547688 0.00023
NM_001006658.3(CR2):c.3033G>C (p.Gln1011His) rs200182370 0.00021
NM_003998.4(NFKB1):c.1736G>A (p.Arg579Lys) rs4648086 0.00016
NM_012452.3(TNFRSF13B):c.592C>T (p.Arg198Cys) rs140781824 0.00016
NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) rs138963927 0.00011
NM_001364905.1(LRBA):c.6046+7G>T rs376126419 0.00010
NM_004356.4(CD81):c.583G>A (p.Asp195Asn) rs144435973 0.00008
NM_012452.3(TNFRSF13B):c.34C>T (p.Arg12Trp) rs779924436 0.00006
NM_001006658.3(CR2):c.1687G>A (p.Gly563Arg) rs148153783 0.00005
NM_004356.4(CD81):c.182-5G>A rs562261414 0.00005
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=) rs563687760 0.00004
NM_152866.3(MS4A1):c.315G>C (p.Glu105Asp) rs267603055 0.00003
NM_182972.3(IRF2BP2):c.189C>A (p.His63Gln) rs754511640 0.00003
NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe) rs751947187 0.00002
NM_001364905.1(LRBA):c.337A>G (p.Met113Val) rs369275377 0.00002
NM_001006658.3(CR2):c.214G>A (p.Asp72Asn) rs759188564 0.00001
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1690T>C (p.Ser564Pro) rs2147424985
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000626.4(CD79B):c.414A>G (p.Thr138=) rs1567810051
NM_001006658.3(CR2):c.3112G>A (p.Gly1038Ser)
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001136139.4(TCF3):c.1755G>A (p.Lys585=) rs1568312916
NM_001364905.1(LRBA):c.3914G>C (p.Arg1305Pro) rs144754728
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001770.6(CD19):c.1487-11C>G rs769960273
NM_001770.6(CD19):c.178C>T (p.Pro60Ser) rs1010611591
NM_003200.5(TCF3):c.320C>T (p.Ala107Val)
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.521delinsAT (p.Ala174fs)
NM_181523.3(PIK3R1):c.785G>C (p.Arg262Thr) rs2112195809
NM_182972.3(IRF2BP2):c.352C>G (p.Pro118Ala) rs148187914

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