ClinVar Miner

List of variants in gene STXBP2 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_006949.4(STXBP2):c.1286C>T (p.Ala429Val) rs199924392 0.00036
NM_006949.4(STXBP2):c.1772C>A (p.Ala591Asp) rs150701487 0.00032
NM_006949.4(STXBP2):c.167C>T (p.Thr56Ile) rs138007892 0.00024
NM_006949.4(STXBP2):c.1396A>T (p.Met466Leu) rs146685108 0.00021
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_006949.4(STXBP2):c.1403C>T (p.Pro468Leu) rs572516987 0.00016
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val) rs756684008 0.00016
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_006949.4(STXBP2):c.1204G>A (p.Asp402Asn) rs114628602 0.00014
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) rs542557411 0.00012
NM_006949.4(STXBP2):c.1268C>A (p.Ala423Asp) rs150072458 0.00011
NM_006949.4(STXBP2):c.1356+13C>T rs544312114 0.00011
NM_006949.4(STXBP2):c.661G>A (p.Glu221Lys) rs201649843 0.00011
NM_006949.4(STXBP2):c.1682G>C (p.Trp561Ser) rs537825002 0.00009
NM_006949.4(STXBP2):c.1723C>T (p.Arg575Cys) rs201481880 0.00009
NM_006949.4(STXBP2):c.36A>G (p.Glu12=) rs765466426 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu) rs778792433 0.00008
NM_006949.4(STXBP2):c.1354G>A (p.Gly452Arg) rs148777693 0.00008
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) rs144233139 0.00008
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met) rs200135215 0.00008
NM_006949.4(STXBP2):c.1681T>C (p.Trp561Arg) rs202167383 0.00007
NM_006949.4(STXBP2):c.1186G>A (p.Ala396Thr) rs768077536 0.00006
NM_006949.4(STXBP2):c.1531G>A (p.Ala511Thr) rs138581300 0.00006
NM_006949.4(STXBP2):c.336G>T (p.Glu112Asp) rs751965889 0.00006
NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp) rs768296460 0.00006
NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg) rs369683019 0.00006
NM_006949.4(STXBP2):c.514C>G (p.Leu172Val) rs905210837 0.00006
NM_006949.4(STXBP2):c.641C>T (p.Ala214Val) rs746329841 0.00006
NM_006949.4(STXBP2):c.1356+5G>A rs748635794 0.00005
NM_006949.4(STXBP2):c.1376G>A (p.Arg459Gln) rs201164454 0.00005
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) rs773575515 0.00005
NM_006949.4(STXBP2):c.1597C>T (p.Arg533Trp) rs747482928 0.00005
NM_006949.4(STXBP2):c.334G>A (p.Glu112Lys) rs368824770 0.00005
NM_006949.4(STXBP2):c.1184A>G (p.Asp395Gly) rs751931943 0.00004
NM_006949.4(STXBP2):c.1356+4C>T rs369000333 0.00004
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1453-6C>T rs200538123 0.00004
NM_006949.4(STXBP2):c.1456G>A (p.Ala486Thr) rs199839827 0.00004
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) rs750599225 0.00004
NM_006949.4(STXBP2):c.1672G>A (p.Glu558Lys) rs758554274 0.00004
NM_006949.4(STXBP2):c.275A>T (p.Gln92Leu) rs779265777 0.00004
NM_006949.4(STXBP2):c.358C>T (p.Arg120Cys) rs140745219 0.00004
NM_006949.4(STXBP2):c.541G>A (p.Ala181Thr) rs1338883281 0.00004
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) rs188212047 0.00004
NM_006949.4(STXBP2):c.610G>A (p.Ala204Thr) rs373450263 0.00004
NM_006949.4(STXBP2):c.1026+3G>A rs759183489 0.00003
NM_006949.4(STXBP2):c.116G>A (p.Arg39His) rs200306463 0.00003
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) rs980486322 0.00003
NM_006949.4(STXBP2):c.1420C>T (p.Arg474Cys) rs759586229 0.00003
NM_006949.4(STXBP2):c.1453-9G>A rs372742473 0.00003
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) rs374131788 0.00003
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) rs886054703 0.00003
NM_006949.4(STXBP2):c.364C>T (p.Arg122Cys) rs371725400 0.00003
NM_006949.4(STXBP2):c.533C>T (p.Thr178Met) rs762234445 0.00003
NM_006949.4(STXBP2):c.680G>A (p.Arg227His) rs200855062 0.00003
NM_006949.4(STXBP2):c.808G>T (p.Gly270Trp) rs187320742 0.00003
NM_006949.4(STXBP2):c.824G>A (p.Arg275Gln) rs149111957 0.00003
NM_006949.4(STXBP2):c.835G>A (p.Val279Ile) rs753242709 0.00003
NM_006949.4(STXBP2):c.847G>A (p.Glu283Lys) rs778489407 0.00003
NM_006949.4(STXBP2):c.869A>G (p.Glu290Gly) rs1353855735 0.00003
NM_006949.4(STXBP2):c.1027-3C>T rs760320854 0.00002
NM_006949.4(STXBP2):c.1079C>T (p.Ser360Leu) rs779452337 0.00002
NM_006949.4(STXBP2):c.1190C>T (p.Ala397Val) rs1309026455 0.00002
NM_006949.4(STXBP2):c.1468C>T (p.Arg490Trp) rs754527648 0.00002
NM_006949.4(STXBP2):c.1598G>A (p.Arg533Gln) rs147455069 0.00002
NM_006949.4(STXBP2):c.1742A>G (p.Lys581Arg) rs955110475 0.00002
NM_006949.4(STXBP2):c.205C>G (p.Pro69Ala) rs532380776 0.00002
NM_006949.4(STXBP2):c.429+4C>T rs756813344 0.00002
NM_006949.4(STXBP2):c.650C>G (p.Pro217Arg) rs1243481529 0.00002
NM_006949.4(STXBP2):c.960+6G>T rs772589071 0.00002
NM_006949.4(STXBP2):c.97A>G (p.Met33Val) rs769918010 0.00002
NM_006949.4(STXBP2):c.1024A>G (p.Lys342Glu) rs773931525 0.00001
NM_006949.4(STXBP2):c.1026+16C>T rs1455244038 0.00001
NM_006949.4(STXBP2):c.1037A>T (p.His346Leu) rs765133484 0.00001
NM_006949.4(STXBP2):c.1067A>G (p.His356Arg) rs764476944 0.00001
NM_006949.4(STXBP2):c.106C>T (p.Pro36Ser) rs773397741 0.00001
NM_006949.4(STXBP2):c.107C>G (p.Pro36Arg) rs763199081 0.00001
NM_006949.4(STXBP2):c.1135G>T (p.Gly379Trp) rs757979426 0.00001
NM_006949.4(STXBP2):c.1189G>A (p.Ala397Thr) rs1295937505 0.00001
NM_006949.4(STXBP2):c.1198G>A (p.Ala400Thr) rs778507837 0.00001
NM_006949.4(STXBP2):c.1210A>G (p.Ile404Val) rs748212253 0.00001
NM_006949.4(STXBP2):c.1225C>T (p.Leu409Phe) rs763024326 0.00001
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) rs771186417 0.00001
NM_006949.4(STXBP2):c.1240C>T (p.Arg414Trp) rs113305305 0.00001
NM_006949.4(STXBP2):c.1241G>A (p.Arg414Gln) rs202199284 0.00001
NM_006949.4(STXBP2):c.1246+4G>A rs111543394 0.00001
NM_006949.4(STXBP2):c.1253G>A (p.Ser418Asn) rs991821954 0.00001
NM_006949.4(STXBP2):c.1289A>G (p.Asn430Ser) rs759426286 0.00001
NM_006949.4(STXBP2):c.1361C>T (p.Ser454Leu) rs755227395 0.00001
NM_006949.4(STXBP2):c.1370C>G (p.Ser457Cys) rs767692438 0.00001
NM_006949.4(STXBP2):c.1385C>T (p.Pro462Leu) rs573587268 0.00001
NM_006949.4(STXBP2):c.1394G>A (p.Arg465His) rs771732155 0.00001
NM_006949.4(STXBP2):c.1412A>G (p.Gln471Arg) rs1040196718 0.00001
NM_006949.4(STXBP2):c.1423T>C (p.Trp475Arg) rs752928582 0.00001
NM_006949.4(STXBP2):c.1453G>A (p.Asp485Asn) rs1279177809 0.00001
NM_006949.4(STXBP2):c.1469G>A (p.Arg490Gln) rs189009033 0.00001
NM_006949.4(STXBP2):c.1481A>C (p.Asn494Thr) rs1197928359 0.00001
NM_006949.4(STXBP2):c.1484T>G (p.Leu495Arg) rs777364957 0.00001
NM_006949.4(STXBP2):c.1490C>A (p.Pro497His) rs749174262 0.00001
NM_006949.4(STXBP2):c.1501G>A (p.Asp501Asn) rs776782833 0.00001
NM_006949.4(STXBP2):c.1525C>G (p.Gln509Glu) rs760061071 0.00001
NM_006949.4(STXBP2):c.1535T>G (p.Val512Gly) rs1241981409 0.00001
NM_006949.4(STXBP2):c.1549G>A (p.Gly517Ser) rs200026300 0.00001
NM_006949.4(STXBP2):c.1585C>T (p.Arg529Trp) rs766121039 0.00001
NM_006949.4(STXBP2):c.1592G>C (p.Gly531Ala) rs746118454 0.00001
NM_006949.4(STXBP2):c.1606G>A (p.Val536Met) rs374719886 0.00001
NM_006949.4(STXBP2):c.1648G>A (p.Ala550Thr) rs759514227 0.00001
NM_006949.4(STXBP2):c.169+11G>C rs756350869 0.00001
NM_006949.4(STXBP2):c.1694T>C (p.Ile565Thr) rs2032186554 0.00001
NM_006949.4(STXBP2):c.1718C>T (p.Pro573Leu) rs768637937 0.00001
NM_006949.4(STXBP2):c.1732G>A (p.Asp578Asn) rs1187716105 0.00001
NM_006949.4(STXBP2):c.1762G>T (p.Glu588Ter) rs1268122676 0.00001
NM_006949.4(STXBP2):c.1769T>C (p.Ile590Thr) rs745455637 0.00001
NM_006949.4(STXBP2):c.178G>A (p.Asp60Asn) rs2031710370 0.00001
NM_006949.4(STXBP2):c.190C>T (p.Arg64Trp) rs764937841 0.00001
NM_006949.4(STXBP2):c.242A>G (p.Glu81Gly) rs779176001 0.00001
NM_006949.4(STXBP2):c.246+5C>G rs369629603 0.00001
NM_006949.4(STXBP2):c.291C>A (p.Phe97Leu) rs1246771714 0.00001
NM_006949.4(STXBP2):c.326-5C>G rs752733296 0.00001
NM_006949.4(STXBP2):c.359G>A (p.Arg120His) rs777213175 0.00001
NM_006949.4(STXBP2):c.379G>A (p.Val127Met) rs764141843 0.00001
NM_006949.4(STXBP2):c.403C>T (p.Leu135Phe) rs766694710 0.00001
NM_006949.4(STXBP2):c.413T>A (p.Leu138His) rs1185698344 0.00001
NM_006949.4(STXBP2):c.455G>A (p.Ser152Asn) rs757901890 0.00001
NM_006949.4(STXBP2):c.470A>C (p.Tyr157Ser) rs779731433 0.00001
NM_006949.4(STXBP2):c.481C>T (p.Arg161Trp) rs1274431087 0.00001
NM_006949.4(STXBP2):c.482G>A (p.Arg161Gln) rs1365793463 0.00001
NM_006949.4(STXBP2):c.500G>C (p.Arg167Pro) rs949311854 0.00001
NM_006949.4(STXBP2):c.508G>A (p.Glu170Lys) rs760837844 0.00001
NM_006949.4(STXBP2):c.575G>A (p.Arg192His) rs113860815 0.00001
NM_006949.4(STXBP2):c.622A>C (p.Lys208Gln) rs1015967474 0.00001
NM_006949.4(STXBP2):c.631G>A (p.Ala211Thr) rs774890011 0.00001
NM_006949.4(STXBP2):c.647C>A (p.Thr216Asn) rs776842309 0.00001
NM_006949.4(STXBP2):c.649C>T (p.Pro217Ser) rs1249890410 0.00001
NM_006949.4(STXBP2):c.658G>A (p.Gly220Ser) rs1414767497 0.00001
NM_006949.4(STXBP2):c.679C>T (p.Arg227Cys) rs372973081 0.00001
NM_006949.4(STXBP2):c.694A>T (p.Ile232Leu) rs760638875 0.00001
NM_006949.4(STXBP2):c.715C>T (p.Pro239Ser) rs1418225393 0.00001
NM_006949.4(STXBP2):c.743C>T (p.Thr248Met) rs747513823 0.00001
NM_006949.4(STXBP2):c.776T>C (p.Ile259Thr) rs764336756 0.00001
NM_006949.4(STXBP2):c.784G>A (p.Asp262Asn) rs749059785 0.00001
NM_006949.4(STXBP2):c.788C>T (p.Thr263Ile) rs970906050 0.00001
NM_006949.4(STXBP2):c.797A>G (p.Tyr266Cys) rs774131697 0.00001
NM_006949.4(STXBP2):c.799G>A (p.Glu267Lys) rs745716844 0.00001
NM_006949.4(STXBP2):c.79G>C (p.Glu27Gln) rs796488505 0.00001
NM_006949.4(STXBP2):c.817G>A (p.Glu273Lys) rs765370350 0.00001
NM_006949.4(STXBP2):c.842T>C (p.Leu281Pro) rs748802312 0.00001
NM_006949.4(STXBP2):c.87+3del rs771510137 0.00001
NM_006949.4(STXBP2):c.875G>A (p.Arg292His) rs746897867 0.00001
NM_006949.4(STXBP2):c.902+4C>T rs1349313045 0.00001
NM_006949.4(STXBP2):c.938G>A (p.Ser313Asn) rs775739579 0.00001
NM_006949.4(STXBP2):c.939C>A (p.Ser313Arg) rs2031948474 0.00001
NM_006949.4(STXBP2):c.943A>G (p.Arg315Gly) rs747344322 0.00001
NM_006949.4(STXBP2):c.962C>T (p.Ala321Val) rs753737127 0.00001
NM_006949.4(STXBP2):c.*7G>T rs886054706
NM_006949.4(STXBP2):c.1004A>G (p.Gln335Arg)
NM_006949.4(STXBP2):c.1027-11G>C rs2031964890
NM_006949.4(STXBP2):c.1033A>T (p.Thr345Ser)
NM_006949.4(STXBP2):c.1049C>T (p.Ala350Val)
NM_006949.4(STXBP2):c.1059T>G (p.Cys353Trp) rs1234333766
NM_006949.4(STXBP2):c.1062G>A (p.Met354Ile) rs752730714
NM_006949.4(STXBP2):c.1064A>T (p.Lys355Met) rs2031967645
NM_006949.4(STXBP2):c.1071C>T (p.Phe357=) rs2031968313
NM_006949.4(STXBP2):c.1072A>G (p.Lys358Glu) rs2031968427
NM_006949.4(STXBP2):c.1073A>G (p.Lys358Arg)
NM_006949.4(STXBP2):c.1089G>C (p.Lys363Asn) rs2031969287
NM_006949.4(STXBP2):c.1107+3G>A
NM_006949.4(STXBP2):c.1107+6G>C
NM_006949.4(STXBP2):c.1108-3C>T rs1475882314
NM_006949.4(STXBP2):c.1114G>C (p.Ala372Pro)
NM_006949.4(STXBP2):c.1117A>G (p.Met373Val)
NM_006949.4(STXBP2):c.1121G>A (p.Gly374Asp)
NM_006949.4(STXBP2):c.1129G>A (p.Ala377Thr)
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1134G>C (p.Glu378Asp) rs755758613
NM_006949.4(STXBP2):c.1135G>A (p.Gly379Arg)
NM_006949.4(STXBP2):c.1135G>C (p.Gly379Arg)
NM_006949.4(STXBP2):c.1156A>C (p.Met386Leu) rs535236814
NM_006949.4(STXBP2):c.1156A>G (p.Met386Val) rs535236814
NM_006949.4(STXBP2):c.1158G>T (p.Met386Ile) rs2146226431
NM_006949.4(STXBP2):c.115C>T (p.Arg39Cys) rs199579207
NM_006949.4(STXBP2):c.1168G>A (p.Val390Ile)
NM_006949.4(STXBP2):c.1169T>C (p.Val390Ala) rs1599403453
NM_006949.4(STXBP2):c.1171C>G (p.Pro391Ala)
NM_006949.4(STXBP2):c.1172C>A (p.Pro391Gln) rs539611010
NM_006949.4(STXBP2):c.1198_1199insGGCCCG (p.Pro399_Ala400insGlyPro) rs1568469885
NM_006949.4(STXBP2):c.1214G>C (p.Arg405Pro)
NM_006949.4(STXBP2):c.1245T>C (p.Asn415=)
NM_006949.4(STXBP2):c.1259A>G (p.Glu420Gly)
NM_006949.4(STXBP2):c.1273C>G (p.Leu425Val) rs766203399
NM_006949.4(STXBP2):c.1274T>C (p.Leu425Pro)
NM_006949.4(STXBP2):c.1280A>C (p.Gln427Pro) rs2146228250
NM_006949.4(STXBP2):c.1316G>A (p.Arg439His) rs1415837581
NM_006949.4(STXBP2):c.1334G>T (p.Gly445Val) rs2032087931
NM_006949.4(STXBP2):c.1339_1340insAAA (p.Gly446_Thr447insLys) rs2032088247
NM_006949.4(STXBP2):c.133T>C (p.Cys45Arg) rs2146206769
NM_006949.4(STXBP2):c.1354G>C (p.Gly452Arg) rs148777693
NM_006949.4(STXBP2):c.1356+4C>A rs369000333
NM_006949.4(STXBP2):c.1357-7C>A
NM_006949.4(STXBP2):c.1363G>C (p.Gly455Arg)
NM_006949.4(STXBP2):c.1373G>C (p.Ser458Thr)
NM_006949.4(STXBP2):c.137A>G (p.Lys46Arg) rs1358641526
NM_006949.4(STXBP2):c.1384C>G (p.Pro462Ala)
NM_006949.4(STXBP2):c.1397T>C (p.Met466Thr)
NM_006949.4(STXBP2):c.139A>G (p.Met47Val)
NM_006949.4(STXBP2):c.1400A>G (p.Glu467Gly)
NM_006949.4(STXBP2):c.1427C>T (p.Thr476Ile) rs2032136227
NM_006949.4(STXBP2):c.1441G>A (p.Asp481Asn) rs995965057
NM_006949.4(STXBP2):c.1443T>A (p.Asp481Glu)
NM_006949.4(STXBP2):c.1443_1444inv (p.Val482Ile)
NM_006949.4(STXBP2):c.1444G>A (p.Val482Ile)
NM_006949.4(STXBP2):c.1452+12C>T rs768298110
NM_006949.4(STXBP2):c.1455C>A (p.Asp485Glu) rs146425381
NM_006949.4(STXBP2):c.1459G>T (p.Val487Leu) rs150174842
NM_006949.4(STXBP2):c.145G>C (p.Asp49His) rs886054701
NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile) rs377248327
NM_006949.4(STXBP2):c.14G>A (p.Gly5Glu) rs886054700
NM_006949.4(STXBP2):c.1502A>C (p.Asp501Ala) rs1568471865
NM_006949.4(STXBP2):c.1503C>A (p.Asp501Glu)
NM_006949.4(STXBP2):c.1507G>A (p.Ala503Thr) rs374882127
NM_006949.4(STXBP2):c.1507G>T (p.Ala503Ser) rs374882127
NM_006949.4(STXBP2):c.1508C>T (p.Ala503Val)
NM_006949.4(STXBP2):c.1514C>A (p.Thr505Lys)
NM_006949.4(STXBP2):c.1514C>G (p.Thr505Arg) rs375024471
NM_006949.4(STXBP2):c.1514C>T (p.Thr505Met) rs375024471
NM_006949.4(STXBP2):c.1531G>C (p.Ala511Pro) rs138581300
NM_006949.4(STXBP2):c.1538+12G>C
NM_006949.4(STXBP2):c.1538+6G>A
NM_006949.4(STXBP2):c.1541C>T (p.Ala514Val)
NM_006949.4(STXBP2):c.1546T>C (p.Phe516Leu)
NM_006949.4(STXBP2):c.1549G>T (p.Gly517Cys) rs200026300
NM_006949.4(STXBP2):c.1570G>A (p.Ala524Thr) rs2146233888
NM_006949.4(STXBP2):c.1576A>T (p.Ile526Leu) rs6791
NM_006949.4(STXBP2):c.1580A>G (p.Glu527Gly)
NM_006949.4(STXBP2):c.1582G>T (p.Ala528Ser) rs1171695512
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1589C>T (p.Ala530Val)
NM_006949.4(STXBP2):c.1600C>A (p.Leu534Ile)
NM_006949.4(STXBP2):c.1610A>G (p.Tyr537Cys) rs1205069718
NM_006949.4(STXBP2):c.1612G>A (p.Val538Ile) rs2032182835
NM_006949.4(STXBP2):c.1616T>C (p.Met539Thr) rs886054705
NM_006949.4(STXBP2):c.1620C>A (p.Gly540=) rs374131788
NM_006949.4(STXBP2):c.1621G>T (p.Gly541Cys) rs61736587
NM_006949.4(STXBP2):c.1630A>G (p.Met544Val) rs1263938690
NM_006949.4(STXBP2):c.1637A>G (p.Glu546Gly)
NM_006949.4(STXBP2):c.1653C>G (p.Tyr551Ter)
NM_006949.4(STXBP2):c.1654G>C (p.Glu552Gln) rs757368965
NM_006949.4(STXBP2):c.1661C>T (p.Thr554Ile)
NM_006949.4(STXBP2):c.1672G>C (p.Glu558Gln) rs758554274
NM_006949.4(STXBP2):c.1674G>T (p.Glu558Asp) rs780461960
NM_006949.4(STXBP2):c.1687G>A (p.Val563Met) rs1310801774
NM_006949.4(STXBP2):c.1693A>G (p.Ile565Val)
NM_006949.4(STXBP2):c.1696+1G>A
NM_006949.4(STXBP2):c.1697-3C>G rs2146234615
NM_006949.4(STXBP2):c.1700C>T (p.Ser567Phe)
NM_006949.4(STXBP2):c.1718C>G (p.Pro573Arg)
NM_006949.4(STXBP2):c.1722_1723insTCAC (p.Arg575fs)
NM_006949.4(STXBP2):c.1723C>G (p.Arg575Gly) rs201481880
NM_006949.4(STXBP2):c.1724G>T (p.Arg575Leu) rs751679761
NM_006949.4(STXBP2):c.1735_1752dup (p.Asp584_Lys585insAspLeuLysAlaLeuAsp)
NM_006949.4(STXBP2):c.1745C>T (p.Ala582Val)
NM_006949.4(STXBP2):c.1750G>A (p.Asp584Asn)
NM_006949.4(STXBP2):c.202A>G (p.Ile68Val)
NM_006949.4(STXBP2):c.208A>G (p.Ser70Gly)
NM_006949.4(STXBP2):c.220A>T (p.Ile74Phe) rs2031713036
NM_006949.4(STXBP2):c.22G>A (p.Ala8Thr) rs1013949732
NM_006949.4(STXBP2):c.233G>T (p.Ser78Ile) rs1050758306
NM_006949.4(STXBP2):c.235C>T (p.Pro79Ser)
NM_006949.4(STXBP2):c.238A>T (p.Thr80Ser)
NM_006949.4(STXBP2):c.244_246del (p.Lys82del)
NM_006949.4(STXBP2):c.246+16_246+19del
NM_006949.4(STXBP2):c.246+5C>T rs369629603
NM_006949.4(STXBP2):c.248C>T (p.Ser83Leu) rs768490233
NM_006949.4(STXBP2):c.249G>A (p.Ser83=) rs1374023769
NM_006949.4(STXBP2):c.255G>A (p.Gln85=)
NM_006949.4(STXBP2):c.270C>T (p.Asp90=) rs886054702
NM_006949.4(STXBP2):c.277G>A (p.Gly93Arg) rs1428524496
NM_006949.4(STXBP2):c.287C>A (p.Thr96Asn) rs139280621
NM_006949.4(STXBP2):c.287C>T (p.Thr96Ile) rs139280621
NM_006949.4(STXBP2):c.295T>C (p.Tyr99His)
NM_006949.4(STXBP2):c.29T>C (p.Val10Ala) rs2098942359
NM_006949.4(STXBP2):c.302C>T (p.Ala101Val)
NM_006949.4(STXBP2):c.325+18_325+19delinsCA
NM_006949.4(STXBP2):c.325+6T>C
NM_006949.4(STXBP2):c.336G>C (p.Glu112Asp)
NM_006949.4(STXBP2):c.355G>C (p.Gly119Arg) rs1250649701
NM_006949.4(STXBP2):c.377T>C (p.Val126Ala) rs2146213993
NM_006949.4(STXBP2):c.386C>T (p.Thr129Met)
NM_006949.4(STXBP2):c.419A>G (p.Tyr140Cys) rs1202493559
NM_006949.4(STXBP2):c.429+5G>A rs778509701
NM_006949.4(STXBP2):c.429+5G>C
NM_006949.4(STXBP2):c.430-14C>G
NM_006949.4(STXBP2):c.442G>A (p.Asp148Asn) rs748998296
NM_006949.4(STXBP2):c.445G>A (p.Ala149Thr)
NM_006949.4(STXBP2):c.461A>G (p.Tyr154Cys) rs1360171674
NM_006949.4(STXBP2):c.466C>T (p.Leu156Phe) rs1269776643
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006949.4(STXBP2):c.47G>A (p.Ser16Asn) rs2146206110
NM_006949.4(STXBP2):c.485C>T (p.Ala162Val)
NM_006949.4(STXBP2):c.493C>T (p.Arg165Cys) rs1364548535
NM_006949.4(STXBP2):c.500G>A (p.Arg167Gln) rs949311854
NM_006949.4(STXBP2):c.515T>C (p.Leu172Pro) rs2146216023
NM_006949.4(STXBP2):c.526A>G (p.Ile176Val)
NM_006949.4(STXBP2):c.541G>T (p.Ala181Ser) rs1338883281
NM_006949.4(STXBP2):c.542C>T (p.Ala181Val)
NM_006949.4(STXBP2):c.551A>G (p.Gln184Arg)
NM_006949.4(STXBP2):c.569G>A (p.Arg190His) rs1200494574
NM_006949.4(STXBP2):c.574C>T (p.Arg192Cys) rs571713524
NM_006949.4(STXBP2):c.578+11dup rs886054704
NM_006949.4(STXBP2):c.578A>G (p.Lys193Arg)
NM_006949.4(STXBP2):c.579-19_579-5del rs2146216896
NM_006949.4(STXBP2):c.579G>T (p.Lys193Asn) rs370172171
NM_006949.4(STXBP2):c.581G>T (p.Gly194Val)
NM_006949.4(STXBP2):c.58C>T (p.Arg20Trp)
NM_006949.4(STXBP2):c.595G>A (p.Ala199Thr) rs2146217053
NM_006949.4(STXBP2):c.5C>T (p.Ala2Val) rs1599386139
NM_006949.4(STXBP2):c.612C>A (p.Ala204=) rs113033216
NM_006949.4(STXBP2):c.635T>C (p.Phe212Ser) rs2031909131
NM_006949.4(STXBP2):c.638A>C (p.Lys213Thr) rs2146217232
NM_006949.4(STXBP2):c.646A>G (p.Thr216Ala)
NM_006949.4(STXBP2):c.660C>T (p.Gly220=)
NM_006949.4(STXBP2):c.670G>A (p.Glu224Lys) rs2146217637
NM_006949.4(STXBP2):c.671A>G (p.Glu224Gly)
NM_006949.4(STXBP2):c.679C>A (p.Arg227Ser)
NM_006949.4(STXBP2):c.680G>T (p.Arg227Leu)
NM_006949.4(STXBP2):c.68A>G (p.Lys23Arg) rs1401766158
NM_006949.4(STXBP2):c.698T>C (p.Met233Thr) rs373830051
NM_006949.4(STXBP2):c.702C>G (p.Asp234Glu) rs2031917623
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly) rs753879238
NM_006949.4(STXBP2):c.746T>C (p.Phe249Ser)
NM_006949.4(STXBP2):c.751G>A (p.Ala251Thr) rs747657429
NM_006949.4(STXBP2):c.757G>T (p.Ala253Ser) rs2031920386
NM_006949.4(STXBP2):c.758C>A (p.Ala253Glu) rs140252723
NM_006949.4(STXBP2):c.761A>G (p.Tyr254Cys)
NM_006949.4(STXBP2):c.765T>G (p.Asp255Glu) rs2146217996
NM_006949.4(STXBP2):c.766CTG[1] (p.Leu257del) rs2031920971
NM_006949.4(STXBP2):c.775A>G (p.Ile259Val)
NM_006949.4(STXBP2):c.778G>A (p.Glu260Lys) rs1279733096
NM_006949.4(STXBP2):c.794+3C>G rs2146218160
NM_006949.4(STXBP2):c.795-14T>G rs1222017211
NM_006949.4(STXBP2):c.795-3C>T rs2031927304
NM_006949.4(STXBP2):c.7C>T (p.Pro3Ser)
NM_006949.4(STXBP2):c.803C>A (p.Thr268Asn)
NM_006949.4(STXBP2):c.808G>A (p.Gly270Arg) rs187320742
NM_006949.4(STXBP2):c.817G>C (p.Glu273Gln)
NM_006949.4(STXBP2):c.821C>T (p.Ala274Val) rs763174109
NM_006949.4(STXBP2):c.858C>G (p.Asp286Glu)
NM_006949.4(STXBP2):c.87+3A>T rs2146206238
NM_006949.4(STXBP2):c.874C>T (p.Arg292Cys)
NM_006949.4(STXBP2):c.87G>A (p.Lys29=) rs2146206226
NM_006949.4(STXBP2):c.88-3C>T rs2146206672
NM_006949.4(STXBP2):c.892G>A (p.Asp298Asn)
NM_006949.4(STXBP2):c.901_902delinsCC (p.Lys301Pro)
NM_006949.4(STXBP2):c.903-10T>G rs2146219745
NM_006949.4(STXBP2):c.910A>T (p.Thr304Ser)
NM_006949.4(STXBP2):c.934G>A (p.Glu312Lys) rs746027500
NM_006949.4(STXBP2):c.960+4G>C
NM_006949.4(STXBP2):c.997A>C (p.Met333Leu)

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