ClinVar Miner

List of variants in gene CR2, LOC126805994 studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.1225+11C>T rs199538918 0.00153
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile) rs147638245 0.00116
NM_001006658.3(CR2):c.999G>A (p.Gly333=) rs139665677 0.00060
NM_001006658.3(CR2):c.970C>T (p.Arg324Cys) rs147393483 0.00050
NM_001006658.3(CR2):c.1152C>T (p.Thr384=) rs145709085 0.00041
NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala) rs148388565 0.00036
NM_001006658.3(CR2):c.1129T>C (p.Phe377Leu) rs34962578 0.00017
NM_001006658.3(CR2):c.1117G>A (p.Asp373Asn) rs202077872 0.00015
NM_001006658.3(CR2):c.1116C>T (p.Asn372=) rs571478564 0.00011
NM_001006658.3(CR2):c.1043C>T (p.Ala348Val) rs759786703 0.00010
NM_001006658.3(CR2):c.920C>T (p.Pro307Leu) rs138199106 0.00010
NM_001006658.3(CR2):c.1225+14T>C rs369637725 0.00008
NM_001006658.3(CR2):c.1008T>C (p.Ser336=) rs201228014 0.00006
NM_001006658.3(CR2):c.1180A>C (p.Asn394His) rs760698306 0.00006
NM_001006658.3(CR2):c.818-4C>T rs370106455 0.00006
NM_001006658.3(CR2):c.824T>C (p.Phe275Ser) rs376314088 0.00006
NM_001006658.3(CR2):c.1021C>T (p.Arg341Cys) rs529311780 0.00005
NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln) rs139617666 0.00004
NM_001006658.3(CR2):c.1073G>A (p.Arg358Lys) rs200395047 0.00003
NM_001006658.3(CR2):c.1225+3G>C rs1439277709 0.00003
NM_001006658.3(CR2):c.897C>T (p.Ser299=) rs749376455 0.00003
NM_001006658.3(CR2):c.898A>G (p.Ile300Val) rs374076318 0.00003
NM_001006658.3(CR2):c.1044G>A (p.Ala348=) rs144982406 0.00002
NM_001006658.3(CR2):c.1064A>G (p.Gln355Arg) rs777919823 0.00002
NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter) rs772481080 0.00002
NM_001006658.3(CR2):c.1225+12G>A rs374594267 0.00002
NM_001006658.3(CR2):c.921G>A (p.Pro307=) rs764656581 0.00002
NM_001006658.3(CR2):c.1017C>G (p.Ala339=) rs762408649 0.00001
NM_001006658.3(CR2):c.1022G>A (p.Arg341His) rs142742821 0.00001
NM_001006658.3(CR2):c.1094A>G (p.Gln365Arg) rs796416058 0.00001
NM_001006658.3(CR2):c.1122T>C (p.Thr374=) rs527500171 0.00001
NM_001006658.3(CR2):c.1149C>T (p.Phe383=) rs756529992 0.00001
NM_001006658.3(CR2):c.1163G>A (p.Ser388Asn) rs768387209 0.00001
NM_001006658.3(CR2):c.1175G>A (p.Arg392Gln) rs141226912 0.00001
NM_001006658.3(CR2):c.1225+19A>G rs186004745 0.00001
NM_001006658.3(CR2):c.830C>T (p.Pro277Leu) rs201791442 0.00001
NM_001006658.3(CR2):c.951T>C (p.Leu317=) rs41304105 0.00001
NM_001006658.3(CR2):c.975T>C (p.Cys325=) rs748201666 0.00001
NM_001006658.3(CR2):c.980T>C (p.Val327Ala) rs778207648 0.00001
NM_001006658.3(CR2):c.993G>A (p.Lys331=) rs747383697 0.00001
NM_001006658.3(CR2):c.1009_1011dup (p.Gly337_Pro338insGly)
NM_001006658.3(CR2):c.1015G>T (p.Ala339Ser)
NM_001006658.3(CR2):c.1056A>G (p.Pro352=)
NM_001006658.3(CR2):c.1069C>T (p.Leu357=)
NM_001006658.3(CR2):c.1075G>T (p.Gly359Cys) rs769404342
NM_001006658.3(CR2):c.1084G>A (p.Val362Ile) rs1658218505
NM_001006658.3(CR2):c.1086A>T (p.Val362=) rs371022418
NM_001006658.3(CR2):c.1099G>A (p.Asp367Asn) rs2102303421
NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter)
NM_001006658.3(CR2):c.1103G>A (p.Arg368Gln)
NM_001006658.3(CR2):c.1104A>T (p.Arg368=) rs1572954261
NM_001006658.3(CR2):c.1158G>A (p.Lys386=)
NM_001006658.3(CR2):c.1159G>T (p.Gly387Cys)
NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)
NM_001006658.3(CR2):c.1191del (p.Thr398fs) rs1658223688
NM_001006658.3(CR2):c.1194A>G (p.Thr398=)
NM_001006658.3(CR2):c.1206T>C (p.Ser402=)
NM_001006658.3(CR2):c.1215C>T (p.Val405=) rs1287646333
NM_001006658.3(CR2):c.1225+11C>A
NM_001006658.3(CR2):c.1225+1G>C rs398122864
NM_001006658.3(CR2):c.1225+6T>C rs767997795
NM_001006658.3(CR2):c.1225G>A (p.Glu409Lys)
NM_001006658.3(CR2):c.818-12C>T
NM_001006658.3(CR2):c.822T>C (p.Ile274=)
NM_001006658.3(CR2):c.862A>T (p.Ile288Leu)
NM_001006658.3(CR2):c.863T>C (p.Ile288Thr) rs1658208200
NM_001006658.3(CR2):c.878C>G (p.Ala293Gly)
NM_001006658.3(CR2):c.885C>T (p.Val295=) rs959152469
NM_001006658.3(CR2):c.888A>G (p.Ser296=)
NM_001006658.3(CR2):c.890A>G (p.Tyr297Cys)
NM_001006658.3(CR2):c.909C>T (p.Tyr303=)
NM_001006658.3(CR2):c.910A>G (p.Thr304Ala) rs773579040
NM_001006658.3(CR2):c.911C>T (p.Thr304Ile) rs747385839
NM_001006658.3(CR2):c.933A>G (p.Glu311=)
NM_001006658.3(CR2):c.955G>A (p.Gly319Arg)
NM_001006658.3(CR2):c.978A>G (p.Thr326=) rs2102303296
NM_001006658.3(CR2):c.982G>C (p.Asp328His) rs1658214194

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