ClinVar Miner

List of variants in gene CR2 reported as pathogenic for agammaglobulinemia

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00063
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00005
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter) rs185689791 0.00004
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter) rs201017642 0.00002
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter) rs1265812765 0.00001
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter) rs1334688271 0.00001
NM_001006658.3(CR2):c.2423del (p.Asp808fs) rs867610056 0.00001
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter) rs1030733127 0.00001
NM_001006658.3(CR2):c.1458del (p.Phe486fs) rs2527218073
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter) rs2527219225
NM_001006658.3(CR2):c.1646del (p.Gly549fs) rs1658320297
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs) rs1558192723
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs) rs2527222545
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter) rs1331358695
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs) rs1658357615
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter) rs2527225441
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter) rs1658371275
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001006658.3(CR2):c.243del (p.Lys81fs) rs1572950925
NM_001006658.3(CR2):c.2454dup (p.Leu819fs)
NM_001006658.3(CR2):c.2479G>T (p.Gly827Ter)
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter) rs766671758
NM_001006658.3(CR2):c.2608dup (p.Ile870fs)
NM_001006658.3(CR2):c.2864_2865del (p.His955fs) rs2102308703
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs) rs1402133337
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter) rs369363360
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter) rs2527252200
NM_001006658.3(CR2):c.40dup (p.Val14fs) rs750238787
NM_001006658.3(CR2):c.412del (p.Trp138fs) rs890412935
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) rs1572952530
NM_001006658.3(CR2):c.52del (p.Val18fs)
NM_001006658.3(CR2):c.592_595del (p.Ser199fs) rs868255776
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001006658.3(CR2):c.630T>A (p.Cys210Ter)
NM_001006658.3(CR2):c.717del (p.Phe241fs) rs1468427986
NM_001006658.3(CR2):c.721_722del (p.Phe241fs) rs749636258
NM_001006658.3(CR2):c.739C>T (p.Arg247Ter)

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