ClinVar Miner

List of variants in gene STIM1 reported as uncertain significance for congenital myopathy

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 317
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_001382567.1(STIM1):c.1634+269C>G rs139558513 0.00229
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00157
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_001382567.1(STIM1):c.562C>A (p.Gln188Lys) rs372235564 0.00014
NM_001382567.1(STIM1):c.1757G>A (p.Gly586Asp) rs200525396 0.00013
NM_001382567.1(STIM1):c.454G>A (p.Glu152Lys) rs143916878 0.00013
NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly) rs202160755 0.00008
NM_001382567.1(STIM1):c.1729G>A (p.Glu577Lys) rs371443357 0.00007
NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp) rs199893056 0.00007
NM_001382567.1(STIM1):c.1394G>A (p.Arg465His) rs375914426 0.00005
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys) rs142239530 0.00005
NM_001382567.1(STIM1):c.1765C>T (p.Arg589Trp) rs747547917 0.00005
NM_001382567.1(STIM1):c.1410C>G (p.His470Gln) rs748403696 0.00004
NM_001382567.1(STIM1):c.1597C>T (p.Arg533Cys) rs149456514 0.00004
NM_001382567.1(STIM1):c.1634+60G>A rs748049243 0.00004
NM_001382567.1(STIM1):c.1766G>A (p.Arg589Gln) rs199503470 0.00004
NM_001382567.1(STIM1):c.392A>G (p.Asn131Ser) rs201274425 0.00004
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr) rs1444907403 0.00003
NM_001382567.1(STIM1):c.589A>G (p.Thr197Ala) rs367888213 0.00003
NM_001382567.1(STIM1):c.1355C>G (p.Ala452Gly) rs114915823 0.00002
NM_001382567.1(STIM1):c.1393C>T (p.Arg465Cys) rs749694629 0.00002
NM_001382567.1(STIM1):c.1591C>T (p.Arg531Trp) rs772902514 0.00002
NM_001382567.1(STIM1):c.1603A>G (p.Thr535Ala) rs200528072 0.00002
NM_001382567.1(STIM1):c.1651G>A (p.Asp551Asn) rs199914458 0.00002
NM_001382567.1(STIM1):c.1674G>A (p.Met558Ile) rs146111967 0.00002
NM_001382567.1(STIM1):c.1676G>A (p.Ser559Asn) rs200078549 0.00002
NM_001382567.1(STIM1):c.1761C>G (p.Ser587Arg) rs201543900 0.00002
NM_001382567.1(STIM1):c.1772T>C (p.Ile591Thr) rs1036967931 0.00002
NM_001382567.1(STIM1):c.196G>A (p.Glu66Lys) rs199799231 0.00002
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser) rs748277951 0.00002
NM_001382567.1(STIM1):c.853A>G (p.Lys285Glu) rs1474279628 0.00002
NM_001382567.1(STIM1):c.871A>G (p.Asn291Asp) rs201523207 0.00002
NM_001382567.1(STIM1):c.91G>C (p.Ala31Pro) rs368091975 0.00002
NM_001382567.1(STIM1):c.1025A>G (p.Tyr342Cys) rs1565170451 0.00001
NM_001382567.1(STIM1):c.1075G>C (p.Val359Leu) rs1565170474 0.00001
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu) rs200907515 0.00001
NM_001382567.1(STIM1):c.1137+3G>A rs199831332 0.00001
NM_001382567.1(STIM1):c.1154A>G (p.Lys385Arg) rs768311695 0.00001
NM_001382567.1(STIM1):c.1175G>C (p.Gly392Ala) rs1464170461 0.00001
NM_001382567.1(STIM1):c.1186G>A (p.Val396Met) rs1430915758 0.00001
NM_001382567.1(STIM1):c.1206G>A (p.Leu402=) rs760051786 0.00001
NM_001382567.1(STIM1):c.1252G>A (p.Glu418Lys) rs774565443 0.00001
NM_001382567.1(STIM1):c.1270C>T (p.Arg424Trp) rs200892145 0.00001
NM_001382567.1(STIM1):c.1291C>A (p.Gln431Lys) rs199666087 0.00001
NM_001382567.1(STIM1):c.1337G>A (p.Gly446Asp) rs1411280995 0.00001
NM_001382567.1(STIM1):c.1429G>A (p.Val477Met) rs199963821 0.00001
NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr) rs762820296 0.00001
NM_001382567.1(STIM1):c.1447G>A (p.Glu483Lys) rs1449184284 0.00001
NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln) rs201245746 0.00001
NM_001382567.1(STIM1):c.1615C>T (p.His539Tyr) rs1343386197 0.00001
NM_001382567.1(STIM1):c.1616A>G (p.His539Arg) rs2094494239 0.00001
NM_001382567.1(STIM1):c.1636G>T (p.Asp546Tyr) rs534419041 0.00001
NM_001382567.1(STIM1):c.1655C>T (p.Ser552Leu) rs745539009 0.00001
NM_001382567.1(STIM1):c.1682G>A (p.Arg561His) rs746517083 0.00001
NM_001382567.1(STIM1):c.1687C>T (p.Arg563Cys) rs202166909 0.00001
NM_001382567.1(STIM1):c.1688G>A (p.Arg563His) rs771442242 0.00001
NM_001382567.1(STIM1):c.1718G>A (p.Arg573His) rs202147687 0.00001
NM_001382567.1(STIM1):c.1754A>G (p.Asn585Ser) rs748820994 0.00001
NM_001382567.1(STIM1):c.1774G>A (p.Glu592Lys) rs200557274 0.00001
NM_001382567.1(STIM1):c.205C>T (p.Arg69Cys) rs201061396 0.00001
NM_001382567.1(STIM1):c.2124A>T (p.Lys708Asn) rs1346205421 0.00001
NM_001382567.1(STIM1):c.2125A>T (p.Ile709Phe) rs747118337 0.00001
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr) rs751520286 0.00001
NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp) rs1029278195 0.00001
NM_001382567.1(STIM1):c.295C>T (p.His99Tyr) rs1440304974 0.00001
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe) rs201767533 0.00001
NM_001382567.1(STIM1):c.400G>A (p.Val134Met) rs200351944 0.00001
NM_001382567.1(STIM1):c.463C>T (p.Arg155Trp) rs747832260 0.00001
NM_001382567.1(STIM1):c.498-4A>G rs977105613 0.00001
NM_001382567.1(STIM1):c.551G>A (p.Arg184Gln) rs766441391 0.00001
NM_001382567.1(STIM1):c.580G>T (p.Ala194Ser) rs1371053190 0.00001
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu) rs1242032695 0.00001
NM_001382567.1(STIM1):c.626A>G (p.Asn209Ser) rs763916693 0.00001
NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg) rs201500852 0.00001
NM_001382567.1(STIM1):c.670G>A (p.Val224Met) rs1159817252 0.00001
NM_001382567.1(STIM1):c.704G>A (p.Arg235His) rs764002968 0.00001
NM_001382567.1(STIM1):c.733A>G (p.Met245Val) rs755714206 0.00001
NM_001382567.1(STIM1):c.767A>G (p.Gln256Arg) rs201576757 0.00001
NM_001382567.1(STIM1):c.798C>A (p.His266Gln) rs199615736 0.00001
NM_001382567.1(STIM1):c.818G>A (p.Arg273His) rs765987346 0.00001
NM_001382567.1(STIM1):c.931C>T (p.Arg311Trp) rs770698758 0.00001
NM_001382567.1(STIM1):c.937C>T (p.Arg313Cys) rs1248955977 0.00001
NC_000011.10:g.(?_3856251)_(3856429_?)dup
NC_000011.10:g.(?_3856251)_(4091818_?)dup
NC_000011.10:g.(?_3967532)_(4091818_?)dup
NC_000011.9:g.(?_3877491)_(3877649_?)dup
NC_000011.9:g.(?_3877501)_(4113028_?)dup
NC_000011.9:g.(?_4104092)_(4113028_?)dup
NC_000011.9:g.(?_4112492)_(4113028_?)dup
NC_000011.9:g.(?_4112492)_(4113048_?)dup
NM_001382567.1(STIM1):c.100A>T (p.Thr34Ser) rs1565091023
NM_001382567.1(STIM1):c.1010C>G (p.Ser337Cys) rs1038392859
NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)
NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile) rs771348972
NM_001382567.1(STIM1):c.1031C>T (p.Pro344Leu) rs2094469076
NM_001382567.1(STIM1):c.1036G>A (p.Ala346Thr)
NM_001382567.1(STIM1):c.1063C>G (p.His355Asp)
NM_001382567.1(STIM1):c.1063C>T (p.His355Tyr) rs2094469160
NM_001382567.1(STIM1):c.1069G>T (p.Val357Leu) rs918568638
NM_001382567.1(STIM1):c.1079_1080delinsGG (p.Gln360Arg) rs2094469326
NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)
NM_001382567.1(STIM1):c.1092C>G (p.Ile364Met)
NM_001382567.1(STIM1):c.1123G>C (p.Val375Leu)
NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)
NM_001382567.1(STIM1):c.1135G>C (p.Gly379Arg) rs201447973
NM_001382567.1(STIM1):c.1138G>A (p.Ala380Thr)
NM_001382567.1(STIM1):c.1148T>C (p.Ile383Thr)
NM_001382567.1(STIM1):c.116A>G (p.Asn39Ser) rs2135171193
NM_001382567.1(STIM1):c.1180T>C (p.Phe394Leu) rs771694025
NM_001382567.1(STIM1):c.1184A>G (p.His395Arg) rs1565170778
NM_001382567.1(STIM1):c.118T>A (p.Ser40Thr)
NM_001382567.1(STIM1):c.1196G>A (p.Ser399Asn) rs2094473055
NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)
NM_001382567.1(STIM1):c.1232C>G (p.Thr411Arg)
NM_001382567.1(STIM1):c.1239G>A (p.Lys413=)
NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys) rs2135171279
NM_001382567.1(STIM1):c.1250G>A (p.Ser417Asn) rs1025014749
NM_001382567.1(STIM1):c.1271G>A (p.Arg424Gln)
NM_001382567.1(STIM1):c.1276C>T (p.Arg426Cys) rs1057519505
NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro) rs947448351
NM_001382567.1(STIM1):c.1282C>T (p.His428Tyr)
NM_001382567.1(STIM1):c.1284C>A (p.His428Gln)
NM_001382567.1(STIM1):c.1296G>T (p.Gln432His) rs2133226066
NM_001382567.1(STIM1):c.1300G>A (p.Glu434Lys)
NM_001382567.1(STIM1):c.1334C>T (p.Pro445Leu) rs925534511
NM_001382567.1(STIM1):c.1342C>T (p.His448Tyr)
NM_001382567.1(STIM1):c.1344C>G (p.His448Gln)
NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)
NM_001382567.1(STIM1):c.1357G>T (p.Ala453Ser)
NM_001382567.1(STIM1):c.1367T>C (p.Ile456Thr) rs371655991
NM_001382567.1(STIM1):c.1371C>A (p.Asp457Glu) rs777537168
NM_001382567.1(STIM1):c.1371C>G (p.Asp457Glu) rs777537168
NM_001382567.1(STIM1):c.1373C>G (p.Pro458Arg)
NM_001382567.1(STIM1):c.1377C>G (p.Ser459Arg) rs1565171050
NM_001382567.1(STIM1):c.1378T>G (p.Trp460Gly) rs2094475504
NM_001382567.1(STIM1):c.139+4A>G rs755753617
NM_001382567.1(STIM1):c.1396C>T (p.Pro466Ser) rs2133226679
NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)
NM_001382567.1(STIM1):c.1412T>A (p.Phe471Tyr)
NM_001382567.1(STIM1):c.1434T>G (p.Asp478Glu)
NM_001382567.1(STIM1):c.1436A>G (p.Asp479Gly)
NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)
NM_001382567.1(STIM1):c.1453G>A (p.Val485Met)
NM_001382567.1(STIM1):c.1457C>T (p.Ser486Phe) rs2133227042
NM_001382567.1(STIM1):c.1459C>G (p.Pro487Ala)
NM_001382567.1(STIM1):c.1459C>T (p.Pro487Ser) rs2094476134
NM_001382567.1(STIM1):c.146G>A (p.Cys49Tyr) rs1590608659
NM_001382567.1(STIM1):c.1474+16_1474+17delinsTG
NM_001382567.1(STIM1):c.1474+17_1474+18delinsGT
NM_001382567.1(STIM1):c.1580A>G (p.Gln527Arg)
NM_001382567.1(STIM1):c.1583G>A (p.Ser528Asn)
NM_001382567.1(STIM1):c.1586G>C (p.Ser529Thr)
NM_001382567.1(STIM1):c.1592G>A (p.Arg531Gln)
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys) rs753214223
NM_001382567.1(STIM1):c.1594C>T (p.Gln532Ter)
NM_001382567.1(STIM1):c.1598G>A (p.Arg533His) rs555016539
NM_001382567.1(STIM1):c.1601T>C (p.Leu534Pro) rs1565172165
NM_001382567.1(STIM1):c.1609C>G (p.Pro537Ala) rs1228842060
NM_001382567.1(STIM1):c.1609C>T (p.Pro537Ser)
NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)
NM_001382567.1(STIM1):c.1612C>G (p.Gln538Glu) rs2133240605
NM_001382567.1(STIM1):c.1613A>G (p.Gln538Arg)
NM_001382567.1(STIM1):c.1628C>T (p.Ser543Phe)
NM_001382567.1(STIM1):c.1632G>C (p.Gln544His) rs2094494375
NM_001382567.1(STIM1):c.1634+1G>A
NM_001382567.1(STIM1):c.1634+1G>T rs1427379864
NM_001382567.1(STIM1):c.1642A>G (p.Thr548Ala)
NM_001382567.1(STIM1):c.1646A>C (p.His549Pro) rs751432488
NM_001382567.1(STIM1):c.1649C>A (p.Ser550Tyr) rs1590703131
NM_001382567.1(STIM1):c.1673T>A (p.Met558Lys)
NM_001382567.1(STIM1):c.1675A>G (p.Ser559Gly) rs2094523397
NM_001382567.1(STIM1):c.1688G>C (p.Arg563Pro) rs771442242
NM_001382567.1(STIM1):c.1694C>T (p.Ala565Val) rs1382628661
NM_001382567.1(STIM1):c.1703C>G (p.Pro568Arg)
NM_001382567.1(STIM1):c.1703CTC[1] (p.Pro569del) rs754674804
NM_001382567.1(STIM1):c.1717C>A (p.Arg573Ser)
NM_001382567.1(STIM1):c.1717C>T (p.Arg573Cys) rs370846246
NM_001382567.1(STIM1):c.1721C>T (p.Ala574Val)
NM_001382567.1(STIM1):c.1735C>T (p.Leu579Phe)
NM_001382567.1(STIM1):c.1738A>G (p.Asn580Asp) rs755851829
NM_001382567.1(STIM1):c.1741G>A (p.Ala581Thr)
NM_001382567.1(STIM1):c.1744A>G (p.Met582Val)
NM_001382567.1(STIM1):c.1745T>C (p.Met582Thr)
NM_001382567.1(STIM1):c.1751C>T (p.Ser584Phe)
NM_001382567.1(STIM1):c.1757G>T (p.Gly586Val) rs200525396
NM_001382567.1(STIM1):c.175G>C (p.Glu59Gln)
NM_001382567.1(STIM1):c.1762C>A (p.His588Asn)
NM_001382567.1(STIM1):c.1775A>G (p.Glu592Gly) rs2133264174
NM_001382567.1(STIM1):c.1777G>C (p.Gly593Arg)
NM_001382567.1(STIM1):c.1781T>G (p.Val594Gly)
NM_001382567.1(STIM1):c.1783C>T (p.His595Tyr)
NM_001382567.1(STIM1):c.1786C>T (p.Pro596Ser)
NM_001382567.1(STIM1):c.1790G>A (p.Gly597Glu)
NM_001382567.1(STIM1):c.1793C>A (p.Ser598Tyr) rs201520428
NM_001382567.1(STIM1):c.1798G>T (p.Val600Leu) rs527880533
NM_001382567.1(STIM1):c.1805A>G (p.Lys602Arg) rs1554972161
NM_001382567.1(STIM1):c.199G>A (p.Ala67Thr)
NM_001382567.1(STIM1):c.206G>A (p.Arg69His)
NM_001382567.1(STIM1):c.20T>C (p.Leu7Pro)
NM_001382567.1(STIM1):c.2108A>G (p.Lys703Arg)
NM_001382567.1(STIM1):c.2109G>T (p.Lys703Asn)
NM_001382567.1(STIM1):c.2123A>G (p.Lys708Arg) rs2133266402
NM_001382567.1(STIM1):c.2131AAG[1] (p.Lys712del) rs2094526893
NM_001382567.1(STIM1):c.2143AAG[1] (p.Lys716del)
NM_001382567.1(STIM1):c.2149T>C (p.Ter717Gln)
NM_001382567.1(STIM1):c.218A>G (p.Lys73Arg)
NM_001382567.1(STIM1):c.250G>A (p.Asp84Asn)
NM_001382567.1(STIM1):c.267T>A (p.Asp89Glu)
NM_001382567.1(STIM1):c.270+5G>T
NM_001382567.1(STIM1):c.270G>C (p.Glu90Asp)
NM_001382567.1(STIM1):c.271-14C>G rs2136018670
NM_001382567.1(STIM1):c.271-3C>T rs561797617
NM_001382567.1(STIM1):c.272T>A (p.Phe91Tyr)
NM_001382567.1(STIM1):c.295C>G (p.His99Asp) rs1440304974
NM_001382567.1(STIM1):c.296A>G (p.His99Arg)
NM_001382567.1(STIM1):c.301C>G (p.Pro101Ala) rs2136018813
NM_001382567.1(STIM1):c.304A>G (p.Thr102Ala) rs2093978275
NM_001382567.1(STIM1):c.313C>A (p.His105Asn)
NM_001382567.1(STIM1):c.313C>G (p.His105Asp)
NM_001382567.1(STIM1):c.314A>C (p.His105Pro)
NM_001382567.1(STIM1):c.317G>A (p.Ser106Asn)
NM_001382567.1(STIM1):c.31CTC[3] (p.Leu12_Trp13insLeu)
NM_001382567.1(STIM1):c.349G>T (p.Val117Leu)
NM_001382567.1(STIM1):c.350T>A (p.Val117Glu)
NM_001382567.1(STIM1):c.383A>T (p.Glu128Val) rs2136019150
NM_001382567.1(STIM1):c.388T>C (p.Tyr130His)
NM_001382567.1(STIM1):c.398C>T (p.Thr133Ile) rs1590678408
NM_001382567.1(STIM1):c.406G>A (p.Glu136Lys) rs1590678420
NM_001382567.1(STIM1):c.409G>A (p.Val137Met)
NM_001382567.1(STIM1):c.425T>C (p.Ile142Thr)
NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln) rs771484089
NM_001382567.1(STIM1):c.464G>T (p.Arg155Leu)
NM_001382567.1(STIM1):c.46C>T (p.Leu16Phe)
NM_001382567.1(STIM1):c.473A>C (p.Gln158Pro) rs899854132
NM_001382567.1(STIM1):c.482G>A (p.Gly161Asp) rs2133084204
NM_001382567.1(STIM1):c.485A>G (p.His162Arg)
NM_001382567.1(STIM1):c.490A>G (p.Met164Val) rs776121110
NM_001382567.1(STIM1):c.498G>A (p.Arg166=)
NM_001382567.1(STIM1):c.50T>C (p.Leu17Pro)
NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg) rs2090367397
NM_001382567.1(STIM1):c.515C>T (p.Thr172Ile) rs200912784
NM_001382567.1(STIM1):c.518C>T (p.Thr173Ile)
NM_001382567.1(STIM1):c.524C>G (p.Thr175Arg)
NM_001382567.1(STIM1):c.527G>C (p.Gly176Ala)
NM_001382567.1(STIM1):c.530C>T (p.Thr177Ile)
NM_001382567.1(STIM1):c.532G>T (p.Val178Leu) rs1351131329
NM_001382567.1(STIM1):c.541A>G (p.Met181Val) rs2094314118
NM_001382567.1(STIM1):c.545C>A (p.Thr182Lys)
NM_001382567.1(STIM1):c.550C>T (p.Arg184Trp) rs368391164
NM_001382567.1(STIM1):c.560G>A (p.Arg187Gln)
NM_001382567.1(STIM1):c.57G>C (p.Gln19His) rs1554949765
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser) rs2135170451
NM_001382567.1(STIM1):c.610C>T (p.Leu204Phe) rs1375399301
NM_001382567.1(STIM1):c.612C>T (p.Leu204=) rs2094314742
NM_001382567.1(STIM1):c.614T>C (p.Leu205Ser) rs2133161173
NM_001382567.1(STIM1):c.620G>A (p.Arg207His)
NM_001382567.1(STIM1):c.622C>T (p.His208Tyr) rs2133161238
NM_001382567.1(STIM1):c.623A>G (p.His208Arg) rs2094394104
NM_001382567.1(STIM1):c.630C>G (p.His210Gln)
NM_001382567.1(STIM1):c.642C>G (p.Phe214Leu)
NM_001382567.1(STIM1):c.64A>G (p.Ser22Gly)
NM_001382567.1(STIM1):c.658A>G (p.Ile220Val) rs2094394322
NM_001382567.1(STIM1):c.661G>A (p.Val221Ile)
NM_001382567.1(STIM1):c.673G>T (p.Gly225Cys)
NM_001382567.1(STIM1):c.67C>T (p.Leu23Phe)
NM_001382567.1(STIM1):c.684G>T (p.Trp228Cys)
NM_001382567.1(STIM1):c.68T>A (p.Leu23His)
NM_001382567.1(STIM1):c.692A>G (p.Tyr231Cys) rs765230033
NM_001382567.1(STIM1):c.692A>T (p.Tyr231Phe)
NM_001382567.1(STIM1):c.703C>G (p.Arg235Gly)
NM_001382567.1(STIM1):c.710C>T (p.Ser237Phe) rs751364519
NM_001382567.1(STIM1):c.718C>T (p.His240Tyr)
NM_001382567.1(STIM1):c.722T>C (p.Met241Thr) rs1057013806
NM_001382567.1(STIM1):c.723G>A (p.Met241Ile)
NM_001382567.1(STIM1):c.725AGA[1] (p.Lys243del) rs1424195254
NM_001382567.1(STIM1):c.731TGA[1] (p.Met245del) rs2094394895
NM_001382567.1(STIM1):c.733A>C (p.Met245Leu) rs755714206
NM_001382567.1(STIM1):c.738G>C (p.Lys246Asn) rs536528954
NM_001382567.1(STIM1):c.746A>G (p.Glu249Gly)
NM_001382567.1(STIM1):c.747G>T (p.Glu249Asp)
NM_001382567.1(STIM1):c.752T>C (p.Leu251Ser) rs2094395092
NM_001382567.1(STIM1):c.764A>G (p.Glu255Gly)
NM_001382567.1(STIM1):c.769A>G (p.Ser257Gly)
NM_001382567.1(STIM1):c.76A>G (p.Ser26Gly)
NM_001382567.1(STIM1):c.776A>G (p.His259Arg) rs1359363776
NM_001382567.1(STIM1):c.792-3C>A rs201348785
NM_001382567.1(STIM1):c.792-3C>G rs201348785
NM_001382567.1(STIM1):c.792-3C>T
NM_001382567.1(STIM1):c.792-3del rs764247879
NM_001382567.1(STIM1):c.792-5C>G
NM_001382567.1(STIM1):c.796C>T (p.His266Tyr) rs2133185569
NM_001382567.1(STIM1):c.79C>G (p.His27Asp)
NM_001382567.1(STIM1):c.803C>T (p.Ala268Val) rs2094425773
NM_001382567.1(STIM1):c.81C>A (p.His27Gln) rs1393963653
NM_001382567.1(STIM1):c.835A>G (p.Lys279Glu)
NM_001382567.1(STIM1):c.859C>A (p.Arg287Ser) rs1034949340
NM_001382567.1(STIM1):c.859C>T (p.Arg287Cys) rs1034949340
NM_001382567.1(STIM1):c.860G>A (p.Arg287His) rs1565168009
NM_001382567.1(STIM1):c.863A>C (p.Asp288Ala) rs900508637
NM_001382567.1(STIM1):c.872A>C (p.Asn291Thr) rs138848040
NM_001382567.1(STIM1):c.877G>A (p.Ala293Thr)
NM_001382567.1(STIM1):c.902A>G (p.Lys301Arg)
NM_001382567.1(STIM1):c.919A>G (p.Thr307Ala)
NM_001382567.1(STIM1):c.92C>T (p.Ala31Val)
NM_001382567.1(STIM1):c.932G>A (p.Arg311Gln)
NM_001382567.1(STIM1):c.938G>A (p.Arg313His) rs776331076
NM_001382567.1(STIM1):c.952GAG[2] (p.Glu320del) rs2133186642
NM_001382567.1(STIM1):c.961T>A (p.Leu321Met)
NM_001382567.1(STIM1):c.970G>A (p.Val324Ile)
NM_001382567.1(STIM1):c.974G>A (p.Arg325Gln)
NM_001382567.1(STIM1):c.974G>T (p.Arg325Leu) rs746960459
NM_001382567.1(STIM1):c.979G>A (p.Ala327Thr)
NM_001382567.1(STIM1):c.979G>C (p.Ala327Pro)
NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)

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