ClinVar Miner

List of variants in gene CR2 studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_001006658.2(CR2):c.1022G>A (p.Arg341His)
NM_001006658.2(CR2):c.1044G>A (p.Ala348=)
NM_001006658.2(CR2):c.1078C>T (p.Arg360Ter)
NM_001006658.2(CR2):c.1180A>C (p.Asn394His)
NM_001006658.2(CR2):c.1210C>G (p.Pro404Ala)
NM_001006658.2(CR2):c.1225+1G>C rs398122864
NM_001006658.2(CR2):c.1390C>T (p.Pro464Ser) rs41313740
NM_001006658.2(CR2):c.1395A>G (p.Gln465=) rs188078143
NM_001006658.2(CR2):c.1409C>T (p.Ala470Val)
NM_001006658.2(CR2):c.1425A>T (p.Gly475=)
NM_001006658.2(CR2):c.1458T>C (p.Phe486=) rs147378770
NM_001006658.2(CR2):c.1475A>G (p.Asn492Ser)
NM_001006658.2(CR2):c.1508G>A (p.Gly503Glu)
NM_001006658.2(CR2):c.1597A>T (p.Ile533Phe) rs762951469
NM_001006658.2(CR2):c.1617C>T (p.Thr539=) rs34349246
NM_001006658.2(CR2):c.1622G>T (p.Ser541Ile) rs144075435
NM_001006658.2(CR2):c.1659_1660insG (p.Tyr554fs) rs1558192723
NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu) rs143614333
NM_001006658.2(CR2):c.1688G>A (p.Gly563Glu)
NM_001006658.2(CR2):c.1931G>A (p.Cys644Tyr) rs149972318
NM_001006658.2(CR2):c.1944C>G (p.Asn648Lys)
NM_001006658.2(CR2):c.1962A>G (p.Ile654Met)
NM_001006658.2(CR2):c.2006A>G (p.His669Arg) rs139230275
NM_001006658.2(CR2):c.2030C>T (p.Thr677Met) rs142648420
NM_001006658.2(CR2):c.2228C>T (p.Ser743Phe) rs1357626624
NM_001006658.2(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001006658.2(CR2):c.2352T>C (p.Ile784=) rs142319454
NM_001006658.2(CR2):c.243del (p.Lys81fs)
NM_001006658.2(CR2):c.2445A>G (p.Gly815=) rs141282665
NM_001006658.2(CR2):c.249A>C (p.Glu83Asp)
NM_001006658.2(CR2):c.2506C>T (p.Pro836Ser) rs147263584
NM_001006658.2(CR2):c.250T>C (p.Tyr84His)
NM_001006658.2(CR2):c.2586T>A (p.His862Gln)
NM_001006658.2(CR2):c.2611G>T (p.Val871Leu) rs144572703
NM_001006658.2(CR2):c.2649T>C (p.Gly883=) rs1143665
NM_001006658.2(CR2):c.2654G>A (p.Arg885His) rs140808707
NM_001006658.2(CR2):c.2656G>A (p.Val886Met)
NM_001006658.2(CR2):c.2685G>T (p.Trp895Cys)
NM_001006658.2(CR2):c.2723T>C (p.Ile908Thr)
NM_001006658.2(CR2):c.2738C>T (p.Pro913Leu) rs772503117
NM_001006658.2(CR2):c.2743A>G (p.Lys915Glu)
NM_001006658.2(CR2):c.2783G>A (p.Arg928Gln)
NM_001006658.2(CR2):c.2844G>A (p.Glu948=) rs61754518
NM_001006658.2(CR2):c.2863C>T (p.His955Tyr) rs1329384177
NM_001006658.2(CR2):c.2920C>A (p.Pro974Thr) rs1292827746
NM_001006658.2(CR2):c.3047C>T (p.Ser1016Leu)
NM_001006658.2(CR2):c.3100C>G (p.Pro1034Ala) rs1558196448
NM_001006658.2(CR2):c.3187C>T (p.Arg1063Cys) rs145499318
NM_001006658.2(CR2):c.3189-8_3189-7delCT rs112859639
NM_001006658.2(CR2):c.3211C>A (p.Gln1071Lys)
NM_001006658.2(CR2):c.3211C>T (p.Gln1071Ter)
NM_001006658.2(CR2):c.3238C>T (p.Arg1080Ter)
NM_001006658.2(CR2):c.3251C>A (p.Ser1084Tyr) rs142273168
NM_001006658.2(CR2):c.357A>G (p.Lys119=)
NM_001006658.2(CR2):c.375C>T (p.Asn125=) rs138096192
NM_001006658.2(CR2):c.389T>C (p.Val130Ala) rs543886209
NM_001006658.2(CR2):c.424C>T (p.Arg142Ter) rs201017642
NM_001006658.2(CR2):c.452C>T (p.Pro151Leu)
NM_001006658.2(CR2):c.462T>A (p.Cys154Ter)
NM_001006658.2(CR2):c.520G>C (p.Ala174Pro)
NM_001006658.2(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.2(CR2):c.52G>A (p.Val18Ile) rs892246082
NM_001006658.2(CR2):c.599C>T (p.Ser200Leu)
NM_001006658.2(CR2):c.605A>C (p.Lys202Thr) rs893377104
NM_001006658.2(CR2):c.622C>T (p.Pro208Ser)
NM_001006658.2(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.2(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001006658.2(CR2):c.641G>A (p.Arg214His) rs141831783
NM_001006658.2(CR2):c.659G>A (p.Arg220Gln)
NM_001006658.2(CR2):c.665C>T (p.Pro222Leu)
NM_001006658.2(CR2):c.668A>G (p.Asn223Ser)
NM_001006658.2(CR2):c.721_722del (p.Phe241fs) rs749636258
NM_001006658.2(CR2):c.728A>T (p.Asp243Val)
NM_001006658.2(CR2):c.784G>T (p.Gly262Ter)
NM_001006658.2(CR2):c.7G>T (p.Ala3Ser) rs1423906073
NM_001006658.2(CR2):c.898A>G (p.Ile300Val)
NM_001006658.2(CR2):c.920C>T (p.Pro307Leu)
NM_001006658.2(CR2):c.921G>A (p.Pro307=)
NM_001006658.2(CR2):c.999G>A (p.Gly333=) rs139665677

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