ClinVar Miner

List of variants in gene LOC130008987, 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: 188
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HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg) rs782650611 0.11673
NM_032790.4(ORAI1):c.132A>G (p.Pro44=) rs554617167 0.00402
NC_000012.12:g.121626882_121626883insT rs375895928 0.00381
NM_032790.4(ORAI1):c.49C>T (p.Pro17Ser) rs568054544 0.00146
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg) rs781829024 0.00102
NC_000012.12:g.121626754G>T rs868908978 0.00033
NC_000012.12:g.121626767C>T rs868966101 0.00030
NC_000012.12:g.121626856G>C rs1226204743 0.00028
NC_000012.12:g.121626857C>T rs782531427 0.00026
NC_000012.12:g.121626905C>G rs572379138 0.00017
NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu) rs549883296 0.00013
NC_000012.12:g.121626886C>T rs782786977 0.00011
NC_000012.12:g.121626898A>C rs782810452 0.00009
NC_000012.12:g.121626779A>T rs1290572755 0.00006
NC_000012.12:g.121626865G>A rs782246766 0.00005
NC_000012.12:g.121626962A>G rs1411464557 0.00004
NM_032790.4(ORAI1):c.1A>T (p.Met1Leu) rs797044624 0.00004
NC_000012.12:g.121626861C>T rs1555322519 0.00003
NM_032790.4(ORAI1):c.140C>T (p.Pro47Leu) rs781855511 0.00003
NC_000012.12:g.121626755C>G rs1253665950 0.00002
NC_000012.12:g.121626928T>C rs201617764 0.00002
NM_032790.4(ORAI1):c.240C>T (p.Tyr80=) rs199715755 0.00002
NM_032790.4(ORAI1):c.279G>C (p.Ser93=) rs562258866 0.00002
NM_032790.4(ORAI1):c.75C>G (p.Ser25Arg) rs1273511135 0.00002
NC_000012.12:g.121626784C>G rs1330700530 0.00001
NC_000012.12:g.121626849A>T rs1276920059 0.00001
NC_000012.12:g.121626885G>C rs1555322555 0.00001
NC_000012.12:g.121626894C>T rs1305999158 0.00001
NC_000012.12:g.121626899C>T rs553962719 0.00001
NC_000012.12:g.121626946A>C rs557887137 0.00001
NC_000012.12:g.121626954C>T rs1566466065 0.00001
NC_000012.12:g.121626959T>G rs1286173837 0.00001
NC_000012.12:g.121626975G>C rs1555322589 0.00001
NC_000012.12:g.121626990G>A rs782500934 0.00001
NM_032790.4(ORAI1):c.72C>T (p.Thr24=) rs1224617364 0.00001
NC_000012.12:g.121626743A>C
NC_000012.12:g.121626747A>G rs2136841279
NC_000012.12:g.121626748T>G rs1594204338
NC_000012.12:g.121626749C>T rs1594204339
NC_000012.12:g.121626750C>A
NC_000012.12:g.121626758G>C
NC_000012.12:g.121626758G>T
NC_000012.12:g.121626759C>T rs2136841307
NC_000012.12:g.121626759_121626760delinsTT rs2136841311
NC_000012.12:g.121626760C>T
NC_000012.12:g.121626764C>G
NC_000012.12:g.121626764C>T rs1356450700
NC_000012.12:g.121626773C>T rs1892784662
NC_000012.12:g.121626774G>T
NC_000012.12:g.121626776A>C rs1349225419
NC_000012.12:g.121626779A>C
NC_000012.12:g.121626782C>G rs1892784896
NC_000012.12:g.121626785G>A rs1321846731
NC_000012.12:g.121626786A>T
NC_000012.12:g.121626789T>G
NC_000012.12:g.121626793C>T
NC_000012.12:g.121626794C>G
NC_000012.12:g.121626800G>T
NC_000012.12:g.121626803G>T
NC_000012.12:g.121626811C>T rs1555322491
NC_000012.12:g.121626817C>T rs1273511135
NC_000012.12:g.121626818G>A
NC_000012.12:g.121626826C>G
NC_000012.12:g.121626827C>T rs1413893402
NC_000012.12:g.121626830A>G rs2136841468
NC_000012.12:g.121626831G>A rs1389191128
NC_000012.12:g.121626836C>A
NC_000012.12:g.121626839C>G rs1892787893
NC_000012.12:g.121626840G>A rs1465865018
NC_000012.12:g.121626843G>T
NC_000012.12:g.121626851G>A rs2136841564
NC_000012.12:g.121626856G>A
NC_000012.12:g.121626857C>A
NC_000012.12:g.121626857C>G rs782531427
NC_000012.12:g.121626859C>G
NC_000012.12:g.121626862G>T
NC_000012.12:g.121626871G>A rs782427834
NC_000012.12:g.121626871G>T rs782427834
NC_000012.12:g.121626872C>G
NC_000012.12:g.121626872C>T rs1212609439
NC_000012.12:g.121626879_121626882delinsGCCGT rs1892790744
NC_000012.12:g.121626879_121626884delACCGCC
NC_000012.12:g.121626882G>T rs1227828097
NC_000012.12:g.121626883C>T
NC_000012.12:g.121626885G>T rs1555322555
NC_000012.12:g.121626887C>A
NC_000012.12:g.121626887C>G rs781855511
NC_000012.12:g.121626888G>A rs1555322557
NC_000012.12:g.121626890C>T rs2136841806
NC_000012.12:g.121626893C>G
NC_000012.12:g.121626893C>T
NC_000012.12:g.121626897C>T
NC_000012.12:g.121626903C>T
NC_000012.12:g.121626904C>T
NC_000012.12:g.121626908A>G
NC_000012.12:g.121626911G>A
NC_000012.12:g.121626915C>G rs1892792431
NC_000012.12:g.121626916G>A rs1412190366
NC_000012.12:g.121626917G>A rs370688474
NC_000012.12:g.121626919C>T
NC_000012.12:g.121626921G>C
NC_000012.12:g.121626930C>A
NC_000012.12:g.121626941G>A rs782424304
NC_000012.12:g.121626941G>T rs782424304
NC_000012.12:g.121626942C>T
NC_000012.12:g.121626947A>G
NC_000012.12:g.121626947_121626957delinsTG
NC_000012.12:g.121626957C>G rs2136842002
NC_000012.12:g.121626957C>T
NC_000012.12:g.121626963G>A rs1892793910
NC_000012.12:g.121626971C>G
NC_000012.12:g.121626972C>G
NC_000012.12:g.121626996C>T
NC_000012.12:g.121627002G>C
NC_000012.12:g.121627011C>T
NC_000012.12:g.121627013C>G rs1892795100
NC_000012.12:g.121627034T>C
NC_000012.12:g.121627041C>T
NM_032790.3(ORAI1):c.303+2T>C rs1892796192
NM_032790.4(ORAI1):c.102C>T (p.Ser34=)
NM_032790.4(ORAI1):c.103G>A (p.Gly35Arg)
NM_032790.4(ORAI1):c.104G>A (p.Gly35Glu)
NM_032790.4(ORAI1):c.113_121delAGCCCCCGG (p.Glu38_Pro40del) rs781971569
NM_032790.4(ORAI1):c.114G>T (p.Glu38Asp) rs1226204743
NM_032790.4(ORAI1):c.116C>T (p.Pro39Leu)
NM_032790.4(ORAI1):c.128_131dup (p.Pro45Alafs) rs141919534
NM_032790.4(ORAI1):c.131C>T (p.Pro44Leu)
NM_032790.4(ORAI1):c.131CGC[2][1] (p.Pro46Hisfs) rs782510098
NM_032790.4(ORAI1):c.131CGC[3][1] (p.Pro47Hisfs)
NM_032790.4(ORAI1):c.131_132insGCCGCCGCGGGGACGGGGAGCCCCCGGGGGC (p.Pro47fs)
NM_032790.4(ORAI1):c.131_141delCACCGCCGCCG (p.Pro44Leufs)
NM_032790.4(ORAI1):c.132A>C (p.Pro44=) rs554617167
NM_032790.4(ORAI1):c.132_133delAC (p.Pro45Alafs)
NM_032790.4(ORAI1):c.132_143delACCGCCGCCGTC (p.Pro45_Ser48del) rs1566465887
NM_032790.4(ORAI1):c.132delAinsGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Pro46Glnfs) rs1892790617
NM_032790.4(ORAI1):c.133C>G (p.Pro45Ala)
NM_032790.4(ORAI1):c.133_135CCG[4] (p.Pro47_Ser48insPro)
NM_032790.4(ORAI1):c.135G>A (p.Pro45=)
NM_032790.4(ORAI1):c.135G>C (p.Pro45=) rs1227828097
NM_032790.4(ORAI1):c.137_143CGCCGTC[3] (p.Thr51Argfs) rs1555322554
NM_032790.4(ORAI1):c.159G>C (p.Pro53=)
NM_032790.4(ORAI1):c.165G>T (p.Trp55Cys)
NM_032790.4(ORAI1):c.16_20GCCCC[3] (p.Pro9Argfs)
NM_032790.4(ORAI1):c.171C>G (p.Gly57=)
NM_032790.4(ORAI1):c.173A>G (p.Gln58Arg)
NM_032790.4(ORAI1):c.173_174AG[1] (p.Ser59Leufs)
NM_032790.4(ORAI1):c.180C>T (p.Tyr60=)
NM_032790.4(ORAI1):c.187G>A (p.Val63Met)
NM_032790.4(ORAI1):c.201C>T (p.Asn67=)
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
NM_032790.4(ORAI1):c.21G>A (p.Pro7=)
NM_032790.4(ORAI1):c.246C>T (p.Ser82=)
NM_032790.4(ORAI1):c.255G>A (p.Lys85=)
NM_032790.4(ORAI1):c.259A>G (p.Lys87Glu)
NM_032790.4(ORAI1):c.264C>G (p.Ala88=)
NM_032790.4(ORAI1):c.265T>G (p.Ser89Ala)
NM_032790.4(ORAI1):c.268A>C (p.Ser90Arg)
NM_032790.4(ORAI1):c.271C>A (p.Arg91=)
NM_032790.4(ORAI1):c.275C>T (p.Thr92Ile)
NM_032790.4(ORAI1):c.282T>C (p.Ala94=)
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys) rs1555322610
NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser) rs786204796
NM_032790.4(ORAI1):c.303+13C>T
NM_032790.4(ORAI1):c.303+17C>T
NM_032790.4(ORAI1):c.303+8C>T
NM_032790.4(ORAI1):c.46C>A (p.Leu16Ile)
NM_032790.4(ORAI1):c.46C>T (p.Leu16Phe)
NM_032790.4(ORAI1):c.53dup (p.Ser19Lysfs)
NM_032790.4(ORAI1):c.54A>G (p.Pro18=)
NM_032790.4(ORAI1):c.55delA (p.Ser19Alafs) rs2136841389
NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser) rs1244560316
NM_032790.4(ORAI1):c.58G>C (p.Gly20Arg) rs1244560316
NM_032790.4(ORAI1):c.58_59delinsAT (p.Gly20Ile)
NM_032790.4(ORAI1):c.58_72delGGCGGCAGCACCACC (p.Gly20_Thr24del)
NM_032790.4(ORAI1):c.61G>C (p.Gly21Arg)
NM_032790.4(ORAI1):c.63C>T (p.Gly21=)
NM_032790.4(ORAI1):c.64_81dup (p.Ser27_Arg28insSerThrThrSerGlySer) rs2136841403
NM_032790.4(ORAI1):c.6T>C (p.His2=)
NM_032790.4(ORAI1):c.71C>T (p.Thr24Ile)
NM_032790.4(ORAI1):c.79A>T (p.Ser27Cys)
NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg) rs1372064351
NM_032790.4(ORAI1):c.88_96dup (p.Arg32_Arg33insSerArgArg)
NM_032790.4(ORAI1):c.8C>T (p.Pro3Leu)
NM_032790.4(ORAI1):c.91_93CGC[4] (p.Arg33_Ser34insArg) rs782013212
NM_032790.4(ORAI1):c.91_93CGC[6] (p.Arg33_Ser34insArgArgArg) rs782013212
NR_186857.1(ORAI1):n.230_240del
NR_186857.1(ORAI1):n.281CCA[3]
NR_186857.1(ORAI1):n.296_329dup

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