ClinVar Miner

List of variants in gene STXBP2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 328
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1403C>T (p.Pro468Leu) rs572516987 0.00016
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val) rs756684008 0.00016
NM_006949.4(STXBP2):c.1204G>A (p.Asp402Asn) rs114628602 0.00014
NM_006949.4(STXBP2):c.1268C>A (p.Ala423Asp) rs150072458 0.00011
NM_006949.4(STXBP2):c.661G>A (p.Glu221Lys) rs201649843 0.00011
NM_006949.4(STXBP2):c.835G>A (p.Val279Ile) rs753242709 0.00010
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.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.1672G>A (p.Glu558Lys) rs758554274 0.00006
NM_006949.4(STXBP2):c.336G>T (p.Glu112Asp) rs751965889 0.00006
NM_006949.4(STXBP2):c.358C>T (p.Arg120Cys) rs140745219 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.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.1456G>A (p.Ala486Thr) rs199839827 0.00004
NM_006949.4(STXBP2):c.275A>T (p.Gln92Leu) rs779265777 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.1420C>T (p.Arg474Cys) rs759586229 0.00003
NM_006949.4(STXBP2):c.1453-9G>A rs372742473 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.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.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.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.1004A>G (p.Gln335Arg)
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.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>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.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.1495G>A (p.Val499Ile) rs377248327
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+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.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.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.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.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.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.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.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.795-3C>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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.