ClinVar Miner

List of variants in gene ORAI1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NC_000012.12:g.121641621C>T rs555170508 0.00007
NC_000012.12:g.121641463C>G rs782656834 0.00005
NC_000012.12:g.121641132C>G rs782478364 0.00004
NC_000012.12:g.121641419G>A rs377456337 0.00004
NC_000012.12:g.121641608G>C rs781960958 0.00004
NC_000012.12:g.121641293C>T rs782383265 0.00003
NC_000012.12:g.121641567C>T rs543436848 0.00003
NC_000012.12:g.121641611C>A rs1189464768 0.00003
NC_000012.12:g.121641254G>A rs533220170 0.00002
NC_000012.12:g.121641369C>A rs782472239 0.00002
NC_000012.12:g.121641491G>A rs1485414099 0.00002
NC_000012.12:g.121641560G>A rs368440417 0.00002
NC_000012.12:g.121641077G>A rs782316353 0.00001
NC_000012.12:g.121641213C>T rs781929515 0.00001
NC_000012.12:g.121641245C>T rs559396531 0.00001
NC_000012.12:g.121641365A>G rs1440863247 0.00001
NC_000012.12:g.121641449G>A rs782448303 0.00001
NC_000012.12:g.121641453C>T rs782580422 0.00001
NC_000012.12:g.121641476G>A rs782169524 0.00001
NC_000012.12:g.121641497G>A rs374711919 0.00001
NC_000012.12:g.121641513G>A rs781789915 0.00001
NC_000012.12:g.121641557A>C rs1311584085 0.00001
NC_000012.12:g.121641626G>A rs375464035 0.00001
NM_032790.4(ORAI1):c.649G>A (p.Ala217Thr) rs782438034 0.00001
NC_000012.11:g.(?_122064648)_(122079549_?)dup
NC_000012.11:g.(?_122078927)_(122079549_?)dup
NC_000012.12:g.121641068G>A rs529121117
NC_000012.12:g.121641087C>G rs782088694
NC_000012.12:g.121641087C>T
NC_000012.12:g.121641114G>A rs2136852559
NC_000012.12:g.121641131G>A rs2136852590
NC_000012.12:g.121641149C>T rs786204797
NC_000012.12:g.121641182G>A
NC_000012.12:g.121641197G>A
NC_000012.12:g.121641204A>G rs1893052177
NC_000012.12:g.121641215G>T
NC_000012.12:g.121641235G>T rs781910070
NC_000012.12:g.121641237G>A
NC_000012.12:g.121641237G>T
NC_000012.12:g.121641240T>C
NC_000012.12:g.121641241G>A rs1416832738
NC_000012.12:g.121641246G>A
NC_000012.12:g.121641261C>T
NC_000012.12:g.121641262C>T
NC_000012.12:g.121641278G>A
NC_000012.12:g.121641281A>G
NC_000012.12:g.121641284G>A rs2136852917
NC_000012.12:g.121641288C>T
NC_000012.12:g.121641346G>A
NC_000012.12:g.121641348A>T
NC_000012.12:g.121641353C>G
NC_000012.12:g.121641353C>T
NC_000012.12:g.121641362C>T
NC_000012.12:g.121641371A>G rs2136853101
NC_000012.12:g.121641371A>T rs2136853101
NC_000012.12:g.121641395G>A
NC_000012.12:g.121641407G>A rs782722476
NC_000012.12:g.121641407G>T
NC_000012.12:g.121641417G>A
NC_000012.12:g.121641433C>T rs2136853300
NC_000012.12:g.121641477G>A rs2136853394
NC_000012.12:g.121641533A>G
NC_000012.12:g.121641533A>T rs1555324156
NC_000012.12:g.121641540G>A
NC_000012.12:g.121641559C>A rs782201078
NC_000012.12:g.121641560G>C rs368440417
NC_000012.12:g.121641582T>A rs1566472954
NC_000012.12:g.121641584C>T
NC_000012.12:g.121641596G>C rs1555324170
NC_000012.12:g.121641615_121641616delinsAG
NC_000012.12:g.121641633A>G
NM_032790.3(ORAI1):c.309-16G>T
NM_032790.4(ORAI1):c.122_142dup (p.Pro47_Ser48insTrpAlaProProProProPro) rs2089908763
NM_032790.4(ORAI1):c.343T>A (p.Tyr115Asn)
NM_032790.4(ORAI1):c.376T>C (p.Cys126Arg) rs1893050626
NM_032790.4(ORAI1):c.382A>C (p.Thr128Pro)
NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)
NM_032790.4(ORAI1):c.444C>G (p.Ile148Met) rs782566002
NM_032790.4(ORAI1):c.466A>G (p.Asn156Asp)
NM_032790.4(ORAI1):c.473A>G (p.Asn158Ser)
NM_032790.4(ORAI1):c.479T>C (p.Val160Ala)
NM_032790.4(ORAI1):c.499C>T (p.Arg167Cys)
NM_032790.4(ORAI1):c.526T>C (p.Trp176Arg)
NM_032790.4(ORAI1):c.564_565delinsTC (p.Ala189Pro)
NM_032790.4(ORAI1):c.574G>T (p.Val192Leu)
NM_032790.4(ORAI1):c.637A>G (p.Ser213Gly)
NM_032790.4(ORAI1):c.665C>A (p.Ala222Asp)
NM_032790.4(ORAI1):c.700G>A (p.Ala234Thr) rs1594212759
NM_032790.4(ORAI1):c.709A>G (p.Ile237Val)
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.752T>C (p.Ile251Thr)
NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)
NM_032790.4(ORAI1):c.816G>C (p.Glu272Asp)
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)

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