ClinVar Miner

List of variants in gene STIM1 studied for combined immunodeficiency due to CRAC channel dysfunction

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 543
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.1474+17C>G rs2289570 0.89391
NM_001382567.1(STIM1):c.1138-25T>C rs10767828 0.67780
NM_001382567.1(STIM1):c.271-3034G>C rs2923950 0.51498
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=) rs2304891 0.43325
NM_001382567.1(STIM1):c.1138-9T>C rs58461583 0.05004
NM_001382567.1(STIM1):c.385+12C>T rs114583092 0.04548
NM_001382567.1(STIM1):c.1705C>T (p.Pro569Ser) rs35960304 0.01918
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_001382567.1(STIM1):c.861C>T (p.Arg287=) rs16929446 0.00556
NM_001382567.1(STIM1):c.1239-13C>T rs115353673 0.00426
NM_001382567.1(STIM1):c.1302G>A (p.Glu434=) rs116837894 0.00426
NM_001382567.1(STIM1):c.1604C>T (p.Thr535Met) rs146873551 0.00267
NM_001382567.1(STIM1):c.1634+269C>G rs139558513 0.00229
NM_001382567.1(STIM1):c.507C>T (p.Val169=) rs140488516 0.00178
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.387A>G (p.Val129=) rs116855870 0.00083
NM_001382567.1(STIM1):c.234T>C (p.Asp78=) rs146126071 0.00081
NM_001382567.1(STIM1):c.1170C>G (p.Leu390=) rs143609147 0.00080
NM_001382567.1(STIM1):c.114C>G (p.Ala38=) rs150033189 0.00029
NM_001382567.1(STIM1):c.386-11T>C rs368922449 0.00028
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_001382567.1(STIM1):c.1128C>T (p.Ala376=) rs200375470 0.00020
NM_001382567.1(STIM1):c.140-15G>C rs202069849 0.00015
NM_001382567.1(STIM1):c.1568-9T>C rs201450136 0.00015
NM_001382567.1(STIM1):c.201A>G (p.Ala67=) rs200194500 0.00015
NM_001382567.1(STIM1):c.597C>A (p.Leu199=) rs189905382 0.00015
NM_001382567.1(STIM1):c.969+10T>G rs764751709 0.00015
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.570G>T (p.Leu190=) rs200233698 0.00013
NM_001382567.1(STIM1):c.105C>T (p.Ser35=) rs139540641 0.00012
NM_001382567.1(STIM1):c.792-8C>T rs201395930 0.00012
NM_001382567.1(STIM1):c.1634+11G>A rs199732479 0.00011
NM_001382567.1(STIM1):c.970-15C>G rs188804715 0.00011
NM_001382567.1(STIM1):c.1635-15C>T rs749764733 0.00009
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp) rs200648767 0.00009
NM_001382567.1(STIM1):c.774G>T (p.Leu258=) rs140997213 0.00009
NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly) rs202160755 0.00008
NM_001382567.1(STIM1):c.603G>A (p.Gly201=) rs142843376 0.00008
NM_001382567.1(STIM1):c.975G>C (p.Arg325=) rs200963440 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.139+6G>A rs200233935 0.00006
NM_001382567.1(STIM1):c.1474+16dup rs750124776 0.00006
NM_001382567.1(STIM1):c.1700A>G (p.Lys567Arg) rs140122024 0.00006
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.872A>G (p.Asn291Ser) rs138848040 0.00005
NM_001382567.1(STIM1):c.1410C>G (p.His470Gln) rs748403696 0.00004
NM_001382567.1(STIM1):c.1425C>T (p.Asp475=) rs200776986 0.00004
NM_001382567.1(STIM1):c.1597C>T (p.Arg533Cys) rs149456514 0.00004
NM_001382567.1(STIM1):c.1766G>A (p.Arg589Gln) rs199503470 0.00004
NM_001382567.1(STIM1):c.177G>A (p.Glu59=) rs553909431 0.00004
NM_001382567.1(STIM1):c.385+16G>A rs766833809 0.00004
NM_001382567.1(STIM1):c.392A>G (p.Asn131Ser) rs201274425 0.00004
NM_001382567.1(STIM1):c.108G>A (p.Ser36=) rs551284324 0.00003
NM_001382567.1(STIM1):c.1204C>T (p.Leu402=) rs201091587 0.00003
NM_001382567.1(STIM1):c.1251C>T (p.Ser417=) rs199782037 0.00003
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr) rs1444907403 0.00003
NM_001382567.1(STIM1):c.1611A>G (p.Pro537=) rs199512211 0.00003
NM_001382567.1(STIM1):c.1634+2159A>T rs772759124 0.00003
NM_001382567.1(STIM1):c.1634+7A>G rs371193534 0.00003
NM_001382567.1(STIM1):c.271-19G>A rs763590946 0.00003
NM_001382567.1(STIM1):c.306A>G (p.Thr102=) rs140167452 0.00003
NM_001382567.1(STIM1):c.393T>C (p.Asn131=) rs764275626 0.00003
NM_001382567.1(STIM1):c.589A>G (p.Thr197Ala) rs367888213 0.00003
NM_001382567.1(STIM1):c.810G>A (p.Glu270=) rs201765594 0.00003
NM_001382567.1(STIM1):c.1068G>A (p.Glu356=) rs761203064 0.00002
NM_001382567.1(STIM1):c.1238+9C>T rs375604403 0.00002
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.1599C>T (p.Arg533=) rs377102721 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.1656G>A (p.Ser552=) rs148209416 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.1773C>T (p.Ile591=) rs1308455316 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.270+13A>G rs201780058 0.00002
NM_001382567.1(STIM1):c.285C>T (p.Asp95=) rs780488492 0.00002
NM_001382567.1(STIM1):c.738G>A (p.Lys246=) rs536528954 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.969+16A>G rs774941610 0.00002
NM_001382567.1(STIM1):c.1025A>G (p.Tyr342Cys) rs1565170451 0.00001
NM_001382567.1(STIM1):c.1071G>A (p.Val357=) rs1288963987 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.1089C>T (p.Asn363=) rs376193363 0.00001
NM_001382567.1(STIM1):c.110G>C (p.Gly37Ala) rs201156770 0.00001
NM_001382567.1(STIM1):c.111G>A (p.Gly37=) rs201909794 0.00001
NM_001382567.1(STIM1):c.1125G>T (p.Val375=) rs201975335 0.00001
NM_001382567.1(STIM1):c.1134G>A (p.Glu378=) rs920883663 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.1185C>T (p.His395=) rs1027836784 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.1238+10A>C rs201116081 0.00001
NM_001382567.1(STIM1):c.1239-10C>T rs201644728 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.1299C>T (p.Ile433=) rs200738706 0.00001
NM_001382567.1(STIM1):c.1305C>T (p.Ile435=) rs199801171 0.00001
NM_001382567.1(STIM1):c.1317C>T (p.Phe439=) rs1179975549 0.00001
NM_001382567.1(STIM1):c.1337G>A (p.Gly446Asp) rs1411280995 0.00001
NM_001382567.1(STIM1):c.139+16G>A rs754570282 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.1623G>A (p.Leu541=) rs747948099 0.00001
NM_001382567.1(STIM1):c.1636G>T (p.Asp546Tyr) rs534419041 0.00001
NM_001382567.1(STIM1):c.1653T>C (p.Asp551=) rs1304754642 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.1712T>C (p.Met571Thr) rs1390592487 0.00001
NM_001382567.1(STIM1):c.1718G>A (p.Arg573His) rs202147687 0.00001
NM_001382567.1(STIM1):c.1719T>A (p.Arg573=) rs200164426 0.00001
NM_001382567.1(STIM1):c.1725A>G (p.Ala575=) rs146393409 0.00001
NM_001382567.1(STIM1):c.1728C>T (p.Asp576=) rs542778043 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.2125A>T (p.Ile709Phe) rs747118337 0.00001
NM_001382567.1(STIM1):c.2142T>C (p.Leu714=) rs199935070 0.00001
NM_001382567.1(STIM1):c.228C>T (p.Asp76=) rs749540812 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.300C>T (p.Asp100=) rs200658405 0.00001
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe) rs201767533 0.00001
NM_001382567.1(STIM1):c.348C>T (p.Ser116=) rs200075076 0.00001
NM_001382567.1(STIM1):c.385+7G>A rs370889167 0.00001
NM_001382567.1(STIM1):c.386-11734G>A rs1278421182 0.00001
NM_001382567.1(STIM1):c.399C>T (p.Thr133=) rs199513192 0.00001
NM_001382567.1(STIM1):c.400G>A (p.Val134Met) rs200351944 0.00001
NM_001382567.1(STIM1):c.414A>G (p.Val138=) rs1319501573 0.00001
NM_001382567.1(STIM1):c.463C>T (p.Arg155Trp) rs747832260 0.00001
NM_001382567.1(STIM1):c.474G>A (p.Gln158=) rs1199018766 0.00001
NM_001382567.1(STIM1):c.498-4A>C rs977105613 0.00001
NM_001382567.1(STIM1):c.498-4A>G rs977105613 0.00001
NM_001382567.1(STIM1):c.531T>A (p.Thr177=) rs767768485 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.613+11T>A rs1048701700 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.660C>T (p.Ile220=) rs200982503 0.00001
NM_001382567.1(STIM1):c.670G>A (p.Val224Met) rs1159817252 0.00001
NM_001382567.1(STIM1):c.675C>T (p.Gly225=) rs151061361 0.00001
NM_001382567.1(STIM1):c.704G>A (p.Arg235His) rs764002968 0.00001
NM_001382567.1(STIM1):c.717G>A (p.Glu239=) rs1255140437 0.00001
NM_001382567.1(STIM1):c.733A>G (p.Met245Val) rs755714206 0.00001
NM_001382567.1(STIM1):c.744G>A (p.Leu248=) rs764311095 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.909G>A (p.Leu303=) rs1402539076 0.00001
NM_001382567.1(STIM1):c.912G>C (p.Arg304=) rs533692595 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
NM_001382567.1(STIM1):c.969+15A>T rs1457105275 0.00001
NM_001382567.1(STIM1):c.970-16C>A rs201003963 0.00001
NC_000011.10:g.(?_3856251)_(3856429_?)dup
NC_000011.10:g.(?_3856251)_(4091818_?)dup
NC_000011.10:g.(?_3967532)_(4091818_?)dup
NC_000011.10:g.(?_4059271)_(4059406_?)del
NC_000011.9:g.(?_3877491)_(3877649_?)dup
NC_000011.9:g.(?_3877501)_(4113028_?)dup
NC_000011.9:g.(?_3988762)_(4113028_?)del
NC_000011.9:g.(?_4045083)_(4045237_?)dup
NC_000011.9:g.(?_4076736)_(4076887_?)del
NC_000011.9:g.(?_4112492)_(4113028_?)dup
NC_000011.9:g.(?_4112492)_(4113048_?)dup
NM_001382567.1(STIM1):c.1003C>T (p.Leu335=) rs202060449
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.108G>C (p.Ser36=) rs551284324
NM_001382567.1(STIM1):c.1119G>C (p.Leu373=)
NM_001382567.1(STIM1):c.1119G>T (p.Leu373=)
NM_001382567.1(STIM1):c.1122G>A (p.Leu374=)
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.1137+11C>G
NM_001382567.1(STIM1):c.1137+13C>T rs199507032
NM_001382567.1(STIM1):c.1137+14T>G
NM_001382567.1(STIM1):c.1137+18A>G
NM_001382567.1(STIM1):c.1138-11C>T rs2094472695
NM_001382567.1(STIM1):c.1138-14C>A
NM_001382567.1(STIM1):c.1138-15del rs761654472
NM_001382567.1(STIM1):c.1138-15dup
NM_001382567.1(STIM1):c.1138-16G>A rs2133223879
NM_001382567.1(STIM1):c.1138-4G>A rs1229330873
NM_001382567.1(STIM1):c.1138-8C>T rs750360122
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.1189del (p.Ala397fs) rs2133224258
NM_001382567.1(STIM1):c.1196G>A (p.Ser399Asn) rs2094473055
NM_001382567.1(STIM1):c.1203C>G (p.Ser401=) rs2133224307
NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)
NM_001382567.1(STIM1):c.1221T>C (p.His407=) rs2133224417
NM_001382567.1(STIM1):c.1230A>G (p.Leu410=) rs200232554
NM_001382567.1(STIM1):c.1232C>G (p.Thr411Arg)
NM_001382567.1(STIM1):c.1239-10_1239-9del
NM_001382567.1(STIM1):c.1239-17C>G rs2094474498
NM_001382567.1(STIM1):c.1239-20T>A rs2133225683
NM_001382567.1(STIM1):c.1239-4del rs2133225817
NM_001382567.1(STIM1):c.1239-6C>T rs2133225807
NM_001382567.1(STIM1):c.1239-8G>A
NM_001382567.1(STIM1):c.1239G>A (p.Lys413=)
NM_001382567.1(STIM1):c.1246C>T (p.Leu416=) rs1198313077
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.1272G>A (p.Arg424=) rs2133225953
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.1285C>T (p.Arg429Cys) rs397514671
NM_001382567.1(STIM1):c.1296G>T (p.Gln432His) rs2133226066
NM_001382567.1(STIM1):c.129C>T (p.Ser43=)
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.1347A>C (p.Ser449=) rs765057580
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.1377C>G (p.Ser459Arg) rs1565171050
NM_001382567.1(STIM1):c.1378T>G (p.Trp460Gly) rs2094475504
NM_001382567.1(STIM1):c.139+13T>A rs2135171514
NM_001382567.1(STIM1):c.139+4A>G rs755753617
NM_001382567.1(STIM1):c.139+7C>A rs2090371877
NM_001382567.1(STIM1):c.1396C>T (p.Pro466Ser) rs2133226679
NM_001382567.1(STIM1):c.140-16T>G
NM_001382567.1(STIM1):c.140-5C>T
NM_001382567.1(STIM1):c.140-9C>T
NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)
NM_001382567.1(STIM1):c.1428C>T (p.Asp476=) rs776633274
NM_001382567.1(STIM1):c.1436A>G (p.Asp479Gly)
NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)
NM_001382567.1(STIM1):c.1452del (p.Ile484fs) rs1565171115
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.1461C>G (p.Pro487=) rs751169800
NM_001382567.1(STIM1):c.1461C>T (p.Pro487=) rs751169800
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
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+17C>T
NM_001382567.1(STIM1):c.1474+17_1474+18delinsGT
NM_001382567.1(STIM1):c.1474+17del
NM_001382567.1(STIM1):c.1474+20G>A
NM_001382567.1(STIM1):c.1474+7G>A
NM_001382567.1(STIM1):c.1568-10C>T
NM_001382567.1(STIM1):c.1568-12T>C rs2133240089
NM_001382567.1(STIM1):c.1568-13A>T
NM_001382567.1(STIM1):c.1568-1G>T
NM_001382567.1(STIM1):c.1568-7C>G rs1234433480
NM_001382567.1(STIM1):c.1580A>G (p.Gln527Arg)
NM_001382567.1(STIM1):c.1581G>A (p.Gln527=)
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.1593G>A (p.Arg531=) rs765806444
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys) rs753214223
NM_001382567.1(STIM1):c.1596G>T (p.Gln532His) rs1425652473
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.1605G>A (p.Thr535=)
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.1620C>G (p.Gly540=)
NM_001382567.1(STIM1):c.1620C>T (p.Gly540=)
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+13C>A
NM_001382567.1(STIM1):c.1634+1G>T rs1427379864
NM_001382567.1(STIM1):c.1635-20C>G
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs) rs2135736277
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.1650C>T (p.Ser550=)
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.1712T>G (p.Met571Arg)
NM_001382567.1(STIM1):c.1714A>G (p.Ser572Gly)
NM_001382567.1(STIM1):c.1715G>A (p.Ser572Asn)
NM_001382567.1(STIM1):c.1717C>A (p.Arg573Ser)
NM_001382567.1(STIM1):c.1717C>T (p.Arg573Cys) rs370846246
NM_001382567.1(STIM1):c.1722T>C (p.Ala574=) rs1007050130
NM_001382567.1(STIM1):c.1737C>A (p.Leu579=) rs2133263867
NM_001382567.1(STIM1):c.1738A>G (p.Asn580Asp) rs755851829
NM_001382567.1(STIM1):c.1744A>G (p.Met582Val)
NM_001382567.1(STIM1):c.1745T>C (p.Met582Thr)
NM_001382567.1(STIM1):c.1749T>G (p.Thr583=)
NM_001382567.1(STIM1):c.1757G>T (p.Gly586Val) rs200525396
NM_001382567.1(STIM1):c.1762C>A (p.His588Asn)
NM_001382567.1(STIM1):c.1767G>A (p.Arg589=)
NM_001382567.1(STIM1):c.1775A>G (p.Glu592Gly) rs2133264174
NM_001382567.1(STIM1):c.1779G>A (p.Gly593=)
NM_001382567.1(STIM1):c.1779G>T (p.Gly593=)
NM_001382567.1(STIM1):c.1785C>T (p.His595=) rs1590703370
NM_001382567.1(STIM1):c.1790G>A (p.Gly597Glu)
NM_001382567.1(STIM1):c.1791G>T (p.Gly597=)
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.1809G>A (p.Leu603=)
NM_001382567.1(STIM1):c.192C>T (p.Ser64=) rs200345567
NM_001382567.1(STIM1):c.195C>T (p.Phe65=)
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.2130T>C (p.Phe710=) rs1554972256
NM_001382567.1(STIM1):c.2131AAG[1] (p.Lys712del) rs2094526893
NM_001382567.1(STIM1):c.2142T>A (p.Leu714=) rs199935070
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.221T>C (p.Leu74Pro) rs1057519506
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) rs748277951
NM_001382567.1(STIM1):c.240T>C (p.Asn80=)
NM_001382567.1(STIM1):c.246T>C (p.Asp82=)
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly) rs2135736648
NM_001382567.1(STIM1):c.270+11C>T
NM_001382567.1(STIM1):c.270+12C>T
NM_001382567.1(STIM1):c.270+19C>T
NM_001382567.1(STIM1):c.270+2T>C
NM_001382567.1(STIM1):c.270+5G>T
NM_001382567.1(STIM1):c.270G>C (p.Glu90Asp)
NM_001382567.1(STIM1):c.271-11T>C
NM_001382567.1(STIM1):c.271-14C>G rs2136018670
NM_001382567.1(STIM1):c.271-19G>C
NM_001382567.1(STIM1):c.271-3034_271-3023del
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.297T>C (p.His99=)
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.326A>G (p.His109Arg) rs397514677
NM_001382567.1(STIM1):c.333G>A (p.Glu111=)
NM_001382567.1(STIM1):c.339G>A (p.Lys113=)
NM_001382567.1(STIM1):c.342C>T (p.Leu114=)
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) rs527236030
NM_001382567.1(STIM1):c.345C>T (p.Ile115=) rs770736310
NM_001382567.1(STIM1):c.349G>T (p.Val117Leu)
NM_001382567.1(STIM1):c.354G>A (p.Glu118=)
NM_001382567.1(STIM1):c.360G>A (p.Leu120=)
NM_001382567.1(STIM1):c.375G>A (p.Lys125=)
NM_001382567.1(STIM1):c.381A>G (p.Ser127=)
NM_001382567.1(STIM1):c.381dup (p.Glu128fs) rs397515357
NM_001382567.1(STIM1):c.383A>T (p.Glu128Val) rs2136019150
NM_001382567.1(STIM1):c.385+10749C>T rs763147075
NM_001382567.1(STIM1):c.385+20T>G rs2136019322
NM_001382567.1(STIM1):c.385+7G>T
NM_001382567.1(STIM1):c.386-17C>G
NM_001382567.1(STIM1):c.386-18G>T
NM_001382567.1(STIM1):c.386-1G>A rs2133083597
NM_001382567.1(STIM1):c.386-7164T>A rs2094210478
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.408G>A (p.Glu136=) rs200648767
NM_001382567.1(STIM1):c.409G>A (p.Val137Met)
NM_001382567.1(STIM1):c.429A>G (p.Thr143=) rs2094282235
NM_001382567.1(STIM1):c.438G>A (p.Glu146=)
NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln) rs771484089
NM_001382567.1(STIM1):c.469C>T (p.Leu157=) rs1554968984
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.495A>C (p.Pro165=)
NM_001382567.1(STIM1):c.497+16G>A
NM_001382567.1(STIM1):c.497+17G>A rs200086415
NM_001382567.1(STIM1):c.497+17G>T
NM_001382567.1(STIM1):c.498-14C>G
NM_001382567.1(STIM1):c.498-15T>C
NM_001382567.1(STIM1):c.498-16C>G
NM_001382567.1(STIM1):c.498-18T>A
NM_001382567.1(STIM1):c.498-6C>T
NM_001382567.1(STIM1):c.498G>A (p.Arg166=)
NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg) rs2090367397
NM_001382567.1(STIM1):c.513C>T (p.Asn171=) rs2133104522
NM_001382567.1(STIM1):c.515C>T (p.Thr172Ile) rs200912784
NM_001382567.1(STIM1):c.516C>G (p.Thr172=) rs2133104553
NM_001382567.1(STIM1):c.518C>T (p.Thr173Ile)
NM_001382567.1(STIM1):c.519C>A (p.Thr173=) rs768915274
NM_001382567.1(STIM1):c.530C>T (p.Thr177Ile)
NM_001382567.1(STIM1):c.532G>T (p.Val178Leu) rs1351131329
NM_001382567.1(STIM1):c.537G>A (p.Leu179=)
NM_001382567.1(STIM1):c.541A>G (p.Met181Val) rs2094314118
NM_001382567.1(STIM1):c.546A>C (p.Thr182=) rs2133104739
NM_001382567.1(STIM1):c.549C>T (p.Asp183=) rs1590681707
NM_001382567.1(STIM1):c.54C>T (p.His18=) rs2135170406
NM_001382567.1(STIM1):c.550C>T (p.Arg184Trp) rs368391164
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.614-11CT[2]
NM_001382567.1(STIM1):c.614-20T>C
NM_001382567.1(STIM1):c.614-20T>G
NM_001382567.1(STIM1):c.614-4G>T rs2133161164
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.630C>T (p.His210=) rs199743104
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.660C>A (p.Ile220=) rs200982503
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>T (p.Tyr231Phe)
NM_001382567.1(STIM1):c.693T>C (p.Tyr231=)
NM_001382567.1(STIM1):c.699G>A (p.Gln233=)
NM_001382567.1(STIM1):c.69C>T (p.Leu23=) rs779453226
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs) rs1590688717
NM_001382567.1(STIM1):c.702C>T (p.Asn234=)
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.725AGA[1] (p.Lys243del) rs1424195254
NM_001382567.1(STIM1):c.729G>A (p.Lys243=)
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.750G>T (p.Gly250=)
NM_001382567.1(STIM1):c.752T>C (p.Leu251Ser) rs2094395092
NM_001382567.1(STIM1):c.764A>G (p.Glu255Gly)
NM_001382567.1(STIM1):c.776A>G (p.His259Arg) rs1359363776
NM_001382567.1(STIM1):c.791+15T>G
NM_001382567.1(STIM1):c.791+7C>T rs2094395337
NM_001382567.1(STIM1):c.792-1G>A
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.792-3dup rs764247879
NM_001382567.1(STIM1):c.792-4C>A rs200996329
NM_001382567.1(STIM1):c.792-4C>G rs200996329
NM_001382567.1(STIM1):c.792-4C>T rs200996329
NM_001382567.1(STIM1):c.792-5C>G
NM_001382567.1(STIM1):c.792-8C>A rs201395930
NM_001382567.1(STIM1):c.792-9C>A rs200264068
NM_001382567.1(STIM1):c.792-9C>T
NM_001382567.1(STIM1):c.796C>T (p.His266Tyr) rs2133185569
NM_001382567.1(STIM1):c.79C>G (p.His27Asp)
NM_001382567.1(STIM1):c.801G>A (p.Lys267=)
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.831G>T (p.Val277=)
NM_001382567.1(STIM1):c.840C>G (p.Val280=) rs2133185849
NM_001382567.1(STIM1):c.843T>C (p.His281=) rs760049621
NM_001382567.1(STIM1):c.846G>C (p.Leu282=)
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.869_887del (p.Ile290fs) rs751733169
NM_001382567.1(STIM1):c.870C>T (p.Ile290=)
NM_001382567.1(STIM1):c.872A>C (p.Asn291Thr) rs138848040
NM_001382567.1(STIM1):c.902A>G (p.Lys301Arg)
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp) rs483352867
NM_001382567.1(STIM1):c.919A>G (p.Thr307Ala)
NM_001382567.1(STIM1):c.921T>C (p.Thr307=) rs2133186424
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.954G>A (p.Glu318=)
NM_001382567.1(STIM1):c.969+7G>T
NM_001382567.1(STIM1):c.969+9G>A
NM_001382567.1(STIM1):c.970-19C>T
NM_001382567.1(STIM1):c.970-1G>A rs397515390
NM_001382567.1(STIM1):c.970-6G>T
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.982T>C (p.Leu328=) rs2133220776
NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)

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