ClinVar Miner

List of variants in gene combination CR2, LOC126805994 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile) rs147638245 0.00116
NM_001006658.3(CR2):c.970C>T (p.Arg324Cys) rs147393483 0.00050
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.920C>T (p.Pro307Leu) rs138199106 0.00010
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.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.1022G>A (p.Arg341His) rs142742821 0.00001
NM_001006658.3(CR2):c.1094A>G (p.Gln365Arg) rs796416058 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.830C>T (p.Pro277Leu) rs201791442 0.00001
NM_001006658.3(CR2):c.980T>C (p.Val327Ala) rs778207648 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.1075G>T (p.Gly359Cys) rs769404342
NM_001006658.3(CR2):c.1084G>A (p.Val362Ile) rs1658218505
NM_001006658.3(CR2):c.1099G>A (p.Asp367Asn) rs2102303421
NM_001006658.3(CR2):c.1103G>A (p.Arg368Gln)
NM_001006658.3(CR2):c.1159G>T (p.Gly387Cys)
NM_001006658.3(CR2):c.1225+11C>A
NM_001006658.3(CR2):c.1225+6T>C rs767997795
NM_001006658.3(CR2):c.1225G>A (p.Glu409Lys)
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.890A>G (p.Tyr297Cys)
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.955G>A (p.Gly319Arg)
NM_001006658.3(CR2):c.982G>C (p.Asp328His) rs1658214194

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