ClinVar Miner

List of variants in gene ORAI1 studied for combined immunodeficiency due to ORAI1 deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.798T>C (p.Thr266=) rs3825175 0.50916
NM_032790.4(ORAI1):c.546C>T (p.Ile182=) rs3741595 0.14694
NM_032790.4(ORAI1):c.786T>C (p.Val262=) rs3825174 0.02969
NM_032790.4(ORAI1):c.652A>G (p.Ser218Gly) rs3741596 0.02966
NM_032790.4(ORAI1):c.705T>C (p.Ala235=) rs3741597 0.02920
NM_032790.4(ORAI1):c.576G>A (p.Val192=) rs373332284 0.00130
NM_032790.4(ORAI1):c.668A>G (p.Asn223Ser) rs75603737 0.00127
NM_032790.3(ORAI1):c.309-5C>T rs111498037 0.00083
NM_032790.4(ORAI1):c.763G>A (p.Val255Ile) rs376286032 0.00014
NM_032790.4(ORAI1):c.735C>T (p.Pro245=) rs370588656 0.00013
NM_032790.3(ORAI1):c.309-4G>A rs371157536 0.00009
NM_032790.4(ORAI1):c.693G>A (p.Pro231=) rs200214435 0.00008
NM_032790.4(ORAI1):c.884C>T (p.Thr295Met) rs555170508 0.00007
NM_032790.4(ORAI1):c.885G>A (p.Thr295=) rs187222480 0.00006
NM_032790.4(ORAI1):c.726C>G (p.Ile242Met) rs782656834 0.00005
NM_032790.4(ORAI1):c.330C>T (p.Asp110=) rs375801854 0.00004
NM_032790.4(ORAI1):c.395C>G (p.Ala132Gly) rs782478364 0.00004
NM_032790.4(ORAI1):c.540C>T (p.Thr180=) rs782560001 0.00004
NM_032790.4(ORAI1):c.581T>C (p.Leu194Pro) rs782753385 0.00004
NM_032790.4(ORAI1):c.682G>A (p.Gly228Ser) rs377456337 0.00004
NM_032790.4(ORAI1):c.871G>C (p.Asp291His) rs781960958 0.00004
NM_032790.4(ORAI1):c.556C>T (p.Leu186Phe) rs782383265 0.00003
NM_032790.4(ORAI1):c.558C>T (p.Leu186=) rs781982396 0.00003
NM_032790.4(ORAI1):c.759C>T (p.Phe253=) rs539371248 0.00003
NM_032790.4(ORAI1):c.830C>T (p.Ala277Val) rs543436848 0.00003
NM_032790.4(ORAI1):c.874C>A (p.His292Asn) rs1189464768 0.00003
NM_032790.4(ORAI1):c.339C>T (p.His113=) rs782071653 0.00002
NM_032790.4(ORAI1):c.517G>A (p.Glu173Lys) rs533220170 0.00002
NM_032790.4(ORAI1):c.577C>T (p.Leu193=) rs367886026 0.00002
NM_032790.4(ORAI1):c.632C>A (p.Pro211His) rs782472239 0.00002
NM_032790.4(ORAI1):c.717G>A (p.Ser239=) rs782232018 0.00002
NM_032790.4(ORAI1):c.754G>A (p.Val252Ile) rs1485414099 0.00002
NM_032790.4(ORAI1):c.783G>A (p.Leu261=) rs781878981 0.00002
NM_032790.4(ORAI1):c.823G>A (p.Glu275Lys) rs368440417 0.00002
NM_032790.4(ORAI1):c.831G>A (p.Ala277=) rs370993629 0.00002
NM_032790.3(ORAI1):c.309-18C>T rs781867634 0.00001
NM_032790.4(ORAI1):c.340G>A (p.Asp114Asn) rs782316353 0.00001
NM_032790.4(ORAI1):c.363C>T (p.Ile121=) rs1893050404 0.00001
NM_032790.4(ORAI1):c.411G>A (p.Ala137=) rs987522369 0.00001
NM_032790.4(ORAI1):c.450G>A (p.Ala150=) rs782232478 0.00001
NM_032790.4(ORAI1):c.459C>T (p.Asn153=) rs781980977 0.00001
NM_032790.4(ORAI1):c.462G>A (p.Val154=) rs1555324096 0.00001
NM_032790.4(ORAI1):c.476C>T (p.Ser159Leu) rs781929515 0.00001
NM_032790.4(ORAI1):c.508C>T (p.Arg170Cys) rs559396531 0.00001
NM_032790.4(ORAI1):c.561C>T (p.Phe187=) rs782419547 0.00001
NM_032790.4(ORAI1):c.606C>A (p.Leu202=) rs1160906886 0.00001
NM_032790.4(ORAI1):c.628A>G (p.Arg210Gly) rs1440863247 0.00001
NM_032790.4(ORAI1):c.649G>A (p.Ala217Thr) rs782438034 0.00001
NM_032790.4(ORAI1):c.681C>T (p.Ser227=) rs782091639 0.00001
NM_032790.4(ORAI1):c.712G>A (p.Ala238Thr) rs782448303 0.00001
NM_032790.4(ORAI1):c.716C>T (p.Ser239Leu) rs782580422 0.00001
NM_032790.4(ORAI1):c.739G>A (p.Gly247Ser) rs782169524 0.00001
NM_032790.4(ORAI1):c.760G>A (p.Ala254Thr) rs374711919 0.00001
NM_032790.4(ORAI1):c.776G>A (p.Arg259His) rs781789915 0.00001
NM_032790.4(ORAI1):c.820A>C (p.Asn274His) rs1311584085 0.00001
NM_032790.4(ORAI1):c.882G>C (p.Leu294=) rs1442961151 0.00001
NM_032790.4(ORAI1):c.889G>A (p.Gly297Ser) rs375464035 0.00001
NC_000012.11:g.(?_122064648)_(122064976_?)del
NC_000012.11:g.(?_122078927)_(122079549_?)dup
NC_000012.12:g.121641037G>T
NM_032790.3(ORAI1):c.309-16G>T
NM_032790.4(ORAI1):c.122_142dup (p.Pro47_Ser48insTrpAlaProProProProPro) rs2089908763
NM_032790.4(ORAI1):c.306G>A (p.Val102=)
NM_032790.4(ORAI1):c.308C>A (p.Ala103Glu) rs786205890
NM_032790.4(ORAI1):c.319G>A (p.Val107Met) rs2136852410
NM_032790.4(ORAI1):c.331G>A (p.Ala111Thr) rs529121117
NM_032790.4(ORAI1):c.333T>C (p.Ala111=)
NM_032790.4(ORAI1):c.336C>T (p.Asp112=) rs2136852459
NM_032790.4(ORAI1):c.343T>A (p.Tyr115Asn)
NM_032790.4(ORAI1):c.350C>G (p.Pro117Arg) rs782088694
NM_032790.4(ORAI1):c.350C>T (p.Pro117Leu)
NM_032790.4(ORAI1):c.351G>A (p.Pro117=)
NM_032790.4(ORAI1):c.369C>T (p.Phe123=)
NM_032790.4(ORAI1):c.376T>C (p.Cys126Arg) rs1893050626
NM_032790.4(ORAI1):c.377G>A (p.Cys126Tyr) rs2136852559
NM_032790.4(ORAI1):c.382A>C (p.Thr128Pro)
NM_032790.4(ORAI1):c.384A>C (p.Thr128=) rs1555324082
NM_032790.4(ORAI1):c.384A>G (p.Thr128=)
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)
NM_032790.4(ORAI1):c.394G>A (p.Ala132Thr) rs2136852590
NM_032790.4(ORAI1):c.399G>A (p.Val133=)
NM_032790.4(ORAI1):c.408T>C (p.Phe136=)
NM_032790.4(ORAI1):c.412C>T (p.Leu138Phe) rs786204797
NM_032790.4(ORAI1):c.426C>G (p.Thr142=)
NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)
NM_032790.4(ORAI1):c.444C>G (p.Ile148Met) rs782566002
NM_032790.4(ORAI1):c.444C>T (p.Ile148=) rs782566002
NM_032790.4(ORAI1):c.445G>A (p.Glu149Lys)
NM_032790.4(ORAI1):c.456C>T (p.Ser152=)
NM_032790.4(ORAI1):c.460G>A (p.Val154Met)
NM_032790.4(ORAI1):c.466A>G (p.Asn156Asp)
NM_032790.4(ORAI1):c.467A>G (p.Asn156Ser) rs1893052177
NM_032790.4(ORAI1):c.471C>G (p.Leu157=)
NM_032790.4(ORAI1):c.473A>G (p.Asn158Ser)
NM_032790.4(ORAI1):c.477G>A (p.Ser159=) rs547522547
NM_032790.4(ORAI1):c.478G>T (p.Val160Phe)
NM_032790.4(ORAI1):c.479T>C (p.Val160Ala)
NM_032790.4(ORAI1):c.492C>T (p.Pro164=)
NM_032790.4(ORAI1):c.498G>T (p.Glu166Asp) rs781910070
NM_032790.4(ORAI1):c.499C>T (p.Arg167Cys)
NM_032790.4(ORAI1):c.500G>A (p.Arg167His)
NM_032790.4(ORAI1):c.500G>T (p.Arg167Leu)
NM_032790.4(ORAI1):c.503T>C (p.Met168Thr)
NM_032790.4(ORAI1):c.504G>A (p.Met168Ile) rs1416832738
NM_032790.4(ORAI1):c.505dup (p.His169fs)
NM_032790.4(ORAI1):c.509G>A (p.Arg170His)
NM_032790.4(ORAI1):c.516C>T (p.Ile172=)
NM_032790.4(ORAI1):c.524C>T (p.Ala175Val)
NM_032790.4(ORAI1):c.525C>T (p.Ala175=)
NM_032790.4(ORAI1):c.526T>C (p.Trp176Arg)
NM_032790.4(ORAI1):c.537C>T (p.Ser179=) rs2136852852
NM_032790.4(ORAI1):c.541G>A (p.Val181Ile)
NM_032790.4(ORAI1):c.544A>G (p.Ile182Val)
NM_032790.4(ORAI1):c.546delC (p.Ile182Metfs) rs1594212582
NM_032790.4(ORAI1):c.547G>A (p.Gly183Ser) rs2136852917
NM_032790.4(ORAI1):c.549C>T (p.Gly183=) rs1555324110
NM_032790.4(ORAI1):c.551C>T (p.Thr184Met)
NM_032790.4(ORAI1):c.552G>A (p.Thr184=) rs782215248
NM_032790.4(ORAI1):c.552G>T (p.Thr184=)
NM_032790.4(ORAI1):c.564_565delinsTC (p.Ala189Pro)
NM_032790.4(ORAI1):c.574G>T (p.Val192Leu)
NM_032790.4(ORAI1):c.591C>T (p.Val197=)
NM_032790.4(ORAI1):c.609G>A (p.Lys203=)
NM_032790.4(ORAI1):c.611A>T (p.Lys204Met)
NM_032790.4(ORAI1):c.613C>T (p.Gln205Ter) rs2136853046
NM_032790.4(ORAI1):c.616C>G (p.Pro206Ala)
NM_032790.4(ORAI1):c.616C>T (p.Pro206Ser)
NM_032790.4(ORAI1):c.625C>T (p.Pro209Ser)
NM_032790.4(ORAI1):c.630G>A (p.Arg210=) rs1893056910
NM_032790.4(ORAI1):c.634A>G (p.Thr212Ala) rs2136853101
NM_032790.4(ORAI1):c.634A>T (p.Thr212Ser) rs2136853101
NM_032790.4(ORAI1):c.637A>G (p.Ser213Gly)
NM_032790.4(ORAI1):c.648C>G (p.Pro216=) rs782238081
NM_032790.4(ORAI1):c.648C>T (p.Pro216=) rs782238081
NM_032790.4(ORAI1):c.657C>T (p.Gly219=)
NM_032790.4(ORAI1):c.658G>A (p.Ala220Thr)
NM_032790.4(ORAI1):c.665C>A (p.Ala222Asp)
NM_032790.4(ORAI1):c.666C>G (p.Ala222=)
NM_032790.4(ORAI1):c.670G>A (p.Val224Ile) rs782722476
NM_032790.4(ORAI1):c.670G>T (p.Val224Phe)
NM_032790.4(ORAI1):c.680G>A (p.Ser227Asn)
NM_032790.4(ORAI1):c.696C>T (p.Gly232=) rs2136853300
NM_032790.4(ORAI1):c.699G>A (p.Gln233=) rs2136853304
NM_032790.4(ORAI1):c.700G>A (p.Ala234Thr) rs1594212759
NM_032790.4(ORAI1):c.709A>G (p.Ile237Val)
NM_032790.4(ORAI1):c.711C>T (p.Ile237=)
NM_032790.4(ORAI1):c.712G>C (p.Ala238Pro)
NM_032790.4(ORAI1):c.729G>T (p.Met243Ile)
NM_032790.4(ORAI1):c.736T>C (p.Phe246Leu)
NM_032790.4(ORAI1):c.738C>T (p.Phe246=) rs782401288
NM_032790.4(ORAI1):c.740G>A (p.Gly247Asp) rs2136853394
NM_032790.4(ORAI1):c.750T>C (p.Phe250=)
NM_032790.4(ORAI1):c.750dup (p.Ile251Tyrfs) rs1265366427
NM_032790.4(ORAI1):c.752T>C (p.Ile251Thr)
NM_032790.4(ORAI1):c.753C>T (p.Ile251=)
NM_032790.4(ORAI1):c.762C>T (p.Ala254=)
NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)
NM_032790.4(ORAI1):c.783G>C (p.Leu261=) rs781878981
NM_032790.4(ORAI1):c.796A>G (p.Thr266Ala)
NM_032790.4(ORAI1):c.796A>T (p.Thr266Ser) rs1555324156
NM_032790.4(ORAI1):c.802C>T (p.Arg268Ter)
NM_032790.4(ORAI1):c.803G>A (p.Arg268Gln)
NM_032790.4(ORAI1):c.807G>A (p.Gln269=)
NM_032790.4(ORAI1):c.816G>C (p.Glu272Asp)
NM_032790.4(ORAI1):c.822C>A (p.Asn274Lys) rs782201078
NM_032790.4(ORAI1):c.823G>C (p.Glu275Gln) rs368440417
NM_032790.4(ORAI1):c.834G>A (p.Glu278=) rs1893062288
NM_032790.4(ORAI1):c.845T>A (p.Leu282Ter) rs1566472954
NM_032790.4(ORAI1):c.847C>T (p.Gln283Ter)
NM_032790.4(ORAI1):c.859G>C (p.Asp287His) rs1555324170
NM_032790.4(ORAI1):c.862_863CA[3] (p.Arg289Thrfs) rs1194726675
NM_032790.4(ORAI1):c.863A>G (p.His288Arg)
NM_032790.4(ORAI1):c.874delC (p.His292Thrfs)
NM_032790.4(ORAI1):c.878_879delCCinsAG (p.Pro293Gln)
NM_032790.4(ORAI1):c.888C>T (p.Pro296=) rs782446947
NM_032790.4(ORAI1):c.896A>G (p.His299Arg)

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