ClinVar Miner

List of variants in gene ORAI1 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
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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
NC_000012.12:g.121641036C>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
NC_000012.12:g.121641037G>A rs371157536 0.00009
NC_000012.12:g.121641430G>A rs200214435 0.00008
NC_000012.12:g.121641621C>T rs555170508 0.00007
NC_000012.12:g.121641622G>A rs187222480 0.00006
NC_000012.12:g.121641463C>G rs782656834 0.00005
NC_000012.12:g.121641067C>T rs375801854 0.00004
NC_000012.12:g.121641132C>G rs782478364 0.00004
NC_000012.12:g.121641318T>C rs782753385 0.00004
NC_000012.12:g.121641419G>A rs377456337 0.00004
NC_000012.12:g.121641608G>C rs781960958 0.00004
NM_032790.4(ORAI1):c.540C>T (p.Thr180=) rs782560001 0.00004
NC_000012.12:g.121641293C>T rs782383265 0.00003
NC_000012.12:g.121641295C>T rs781982396 0.00003
NC_000012.12:g.121641496C>T rs539371248 0.00003
NC_000012.12:g.121641567C>T rs543436848 0.00003
NC_000012.12:g.121641611C>A rs1189464768 0.00003
NC_000012.12:g.121641076C>T rs782071653 0.00002
NC_000012.12:g.121641254G>A rs533220170 0.00002
NC_000012.12:g.121641314C>T rs367886026 0.00002
NC_000012.12:g.121641369C>A rs782472239 0.00002
NC_000012.12:g.121641454G>A rs782232018 0.00002
NC_000012.12:g.121641491G>A rs1485414099 0.00002
NC_000012.12:g.121641520G>A rs781878981 0.00002
NC_000012.12:g.121641560G>A rs368440417 0.00002
NC_000012.12:g.121641568G>A rs370993629 0.00002
NC_000012.12:g.121641023C>T rs781867634 0.00001
NC_000012.12:g.121641077G>A rs782316353 0.00001
NC_000012.12:g.121641100C>T rs1893050404 0.00001
NC_000012.12:g.121641187G>A rs782232478 0.00001
NC_000012.12:g.121641196C>T rs781980977 0.00001
NC_000012.12:g.121641199G>A rs1555324096 0.00001
NC_000012.12:g.121641213C>T rs781929515 0.00001
NC_000012.12:g.121641245C>T rs559396531 0.00001
NC_000012.12:g.121641298C>T rs782419547 0.00001
NC_000012.12:g.121641343C>A rs1160906886 0.00001
NC_000012.12:g.121641365A>G rs1440863247 0.00001
NC_000012.12:g.121641418C>T rs782091639 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.121641619G>C rs1442961151 0.00001
NC_000012.12:g.121641626G>A rs375464035 0.00001
NM_032790.4(ORAI1):c.411G>A (p.Ala137=) rs987522369 0.00001
NM_032790.4(ORAI1):c.649G>A (p.Ala217Thr) rs782438034 0.00001
NC_000012.11:g.(?_122064648)_(122064976_?)del
NC_000012.11:g.(?_122064648)_(122079549_?)dup
NC_000012.11:g.(?_122078927)_(122079549_?)dup
NC_000012.12:g.121641025G>T
NC_000012.12:g.121641037G>T
NC_000012.12:g.121641044G>A
NC_000012.12:g.121641056G>A rs2136852410
NC_000012.12:g.121641058G>A
NC_000012.12:g.121641068G>A rs529121117
NC_000012.12:g.121641070T>C
NC_000012.12:g.121641073C>T rs2136852459
NC_000012.12:g.121641087C>G rs782088694
NC_000012.12:g.121641087C>T
NC_000012.12:g.121641088G>A
NC_000012.12:g.121641097C>T
NC_000012.12:g.121641110G>T
NC_000012.12:g.121641112C>T
NC_000012.12:g.121641114G>A rs2136852559
NC_000012.12:g.121641121A>C rs1555324082
NC_000012.12:g.121641130G>A
NC_000012.12:g.121641131G>A rs2136852590
NC_000012.12:g.121641149C>T rs786204797
NC_000012.12:g.121641159G>T
NC_000012.12:g.121641167A>C
NC_000012.12:g.121641181C>T rs782566002
NC_000012.12:g.121641182G>A
NC_000012.12:g.121641193C>T
NC_000012.12:g.121641197G>A
NC_000012.12:g.121641204A>G rs1893052177
NC_000012.12:g.121641208C>G
NC_000012.12:g.121641211C>T
NC_000012.12:g.121641214G>A rs547522547
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.121641253C>T
NC_000012.12:g.121641254G>T
NC_000012.12:g.121641261C>T
NC_000012.12:g.121641262C>T
NC_000012.12:g.121641274C>T rs2136852852
NC_000012.12:g.121641278G>A
NC_000012.12:g.121641281A>G
NC_000012.12:g.121641283del rs1594212582
NC_000012.12:g.121641284G>A rs2136852917
NC_000012.12:g.121641286C>T rs1555324110
NC_000012.12:g.121641288C>T
NC_000012.12:g.121641289G>T
NC_000012.12:g.121641315T>C
NC_000012.12:g.121641329A>G
NC_000012.12:g.121641346G>A
NC_000012.12:g.121641348A>T
NC_000012.12:g.121641350C>T rs2136853046
NC_000012.12:g.121641353C>G
NC_000012.12:g.121641353C>T
NC_000012.12:g.121641362C>T
NC_000012.12:g.121641367G>A rs1893056910
NC_000012.12:g.121641370C>T
NC_000012.12:g.121641371A>G rs2136853101
NC_000012.12:g.121641371A>T rs2136853101
NC_000012.12:g.121641385C>G rs782238081
NC_000012.12:g.121641385C>T rs782238081
NC_000012.12:g.121641395G>A
NC_000012.12:g.121641403C>G
NC_000012.12:g.121641406C>T
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.121641436G>A rs2136853304
NC_000012.12:g.121641448C>T
NC_000012.12:g.121641475C>T rs782401288
NC_000012.12:g.121641477G>A rs2136853394
NC_000012.12:g.121641480T>A
NC_000012.12:g.121641485T>G
NC_000012.12:g.121641490C>T
NC_000012.12:g.121641503C>G
NC_000012.12:g.121641510A>G
NC_000012.12:g.121641517A>G
NC_000012.12:g.121641520G>C rs781878981
NC_000012.12:g.121641521G>A
NC_000012.12:g.121641533A>G
NC_000012.12:g.121641533A>T rs1555324156
NC_000012.12:g.121641539C>T
NC_000012.12:g.121641540G>A
NC_000012.12:g.121641559C>A rs782201078
NC_000012.12:g.121641559C>T
NC_000012.12:g.121641560G>C rs368440417
NC_000012.12:g.121641571G>A rs1893062288
NC_000012.12:g.121641579G>A
NC_000012.12:g.121641582T>A rs1566472954
NC_000012.12:g.121641584C>T
NC_000012.12:g.121641585A>G
NC_000012.12:g.121641596G>C rs1555324170
NC_000012.12:g.121641615_121641616delinsAG
NC_000012.12:g.121641633A>G
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.343T>A (p.Tyr115Asn)
NM_032790.4(ORAI1):c.369C>T (p.Phe123=)
NM_032790.4(ORAI1):c.376T>C (p.Cys126Arg) rs1893050626
NM_032790.4(ORAI1):c.382A>C (p.Thr128Pro)
NM_032790.4(ORAI1):c.384A>G (p.Thr128=)
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)
NM_032790.4(ORAI1):c.399G>A (p.Val133=)
NM_032790.4(ORAI1):c.408T>C (p.Phe136=)
NM_032790.4(ORAI1):c.426C>G (p.Thr142=)
NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)
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.492C>T (p.Pro164=)
NM_032790.4(ORAI1):c.499C>T (p.Arg167Cys)
NM_032790.4(ORAI1):c.505dup (p.His169fs)
NM_032790.4(ORAI1):c.526T>C (p.Trp176Arg)
NM_032790.4(ORAI1):c.552G>A (p.Thr184=) rs782215248
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.637A>G (p.Ser213Gly)
NM_032790.4(ORAI1):c.657C>T (p.Gly219=)
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.734C>T (p.Pro245Leu) rs587777528
NM_032790.4(ORAI1):c.736T>C (p.Phe246Leu)
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.762C>T (p.Ala254=)
NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)
NM_032790.4(ORAI1):c.807G>A (p.Gln269=)
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)
NM_032790.4(ORAI1):c.888C>T (p.Pro296=) rs782446947

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