ClinVar Miner

List of variants in gene ORAI1 reported as uncertain significance for congenital myopathy

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.884C>T (p.Thr295Met) rs555170508 0.00007
NM_032790.4(ORAI1):c.726C>G (p.Ile242Met) rs782656834 0.00005
NM_032790.4(ORAI1):c.395C>G (p.Ala132Gly) rs782478364 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.830C>T (p.Ala277Val) rs543436848 0.00003
NM_032790.4(ORAI1):c.874C>A (p.His292Asn) rs1189464768 0.00003
NM_032790.4(ORAI1):c.517G>A (p.Glu173Lys) rs533220170 0.00002
NM_032790.4(ORAI1):c.632C>A (p.Pro211His) rs782472239 0.00002
NM_032790.4(ORAI1):c.754G>A (p.Val252Ile) rs1485414099 0.00002
NM_032790.4(ORAI1):c.823G>A (p.Glu275Lys) rs368440417 0.00002
NM_032790.4(ORAI1):c.340G>A (p.Asp114Asn) rs782316353 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.628A>G (p.Arg210Gly) rs1440863247 0.00001
NM_032790.4(ORAI1):c.649G>A (p.Ala217Thr) rs782438034 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.889G>A (p.Gly297Ser) rs375464035 0.00001
NC_000012.11:g.(?_122078927)_(122079549_?)dup
NM_032790.3(ORAI1):c.309-16G>T
NM_032790.4(ORAI1):c.122_142dup (p.Pro47_Ser48insTrpAlaProProProProPro) rs2089908763
NM_032790.4(ORAI1):c.331G>A (p.Ala111Thr) rs529121117
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.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.391G>A (p.Val131Met)
NM_032790.4(ORAI1):c.394G>A (p.Ala132Thr) rs2136852590
NM_032790.4(ORAI1):c.412C>T (p.Leu138Phe) rs786204797
NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)
NM_032790.4(ORAI1):c.445G>A (p.Glu149Lys)
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.473A>G (p.Asn158Ser)
NM_032790.4(ORAI1):c.478G>T (p.Val160Phe)
NM_032790.4(ORAI1):c.479T>C (p.Val160Ala)
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.509G>A (p.Arg170His)
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.541G>A (p.Val181Ile)
NM_032790.4(ORAI1):c.544A>G (p.Ile182Val)
NM_032790.4(ORAI1):c.547G>A (p.Gly183Ser) rs2136852917
NM_032790.4(ORAI1):c.551C>T (p.Thr184Met)
NM_032790.4(ORAI1):c.564_565delinsTC (p.Ala189Pro)
NM_032790.4(ORAI1):c.574G>T (p.Val192Leu)
NM_032790.4(ORAI1):c.609G>A (p.Lys203=)
NM_032790.4(ORAI1):c.611A>T (p.Lys204Met)
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.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.658G>A (p.Ala220Thr)
NM_032790.4(ORAI1):c.665C>A (p.Ala222Asp)
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.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.740G>A (p.Gly247Asp) rs2136853394
NM_032790.4(ORAI1):c.752T>C (p.Ile251Thr)
NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)
NM_032790.4(ORAI1):c.796A>G (p.Thr266Ala)
NM_032790.4(ORAI1):c.796A>T (p.Thr266Ser) rs1555324156
NM_032790.4(ORAI1):c.803G>A (p.Arg268Gln)
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.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.896A>G (p.His299Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.