ClinVar Miner

List of variants in gene STXBP1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 316
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.578+145C>T rs7036307 0.98864
NM_001032221.6(STXBP1):c.795-243A>G rs2241167 0.43293
NM_001032221.6(STXBP1):c.246+83G>T rs2287116 0.21159
NM_001032221.6(STXBP1):c.1702+303A>G rs3780659 0.14307
NM_001032221.6(STXBP1):c.663+207T>A rs13297270 0.14307
NM_001032221.6(STXBP1):c.326-305A>G rs4836573 0.12932
NM_001032221.6(STXBP1):c.1359+320T>C rs57559410 0.06826
NM_001032221.6(STXBP1):c.247-181G>A rs17849177 0.06079
NM_001032221.6(STXBP1):c.579-112A>G rs17849179 0.06013
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_001032221.6(STXBP1):c.88-53C>T rs57153442 0.05151
NM_001032221.6(STXBP1):c.1249+222G>A rs12115218 0.04832
NM_001032221.6(STXBP1):c.902+138C>T rs7862127 0.03625
NM_001032221.6(STXBP1):c.1547+169C>G rs116319255 0.02993
NM_001032221.6(STXBP1):c.1703-262G>A rs72752811 0.02979
NM_001032221.6(STXBP1):c.1702+1997G>A rs117911387 0.02415
NM_001032221.6(STXBP1):c.664-200C>T rs111741154 0.01951
NM_001032221.6(STXBP1):c.579-37C>G rs113138293 0.01843
NM_001032221.6(STXBP1):c.1461+80C>A rs73601663 0.01551
NM_001032221.6(STXBP1):c.1702+202G>T rs114487291 0.01528
NM_001032221.6(STXBP1):c.170-202T>A rs7857988 0.01522
NM_001032221.6(STXBP1):c.1029+147G>C rs115175804 0.01521
NM_001032221.6(STXBP1):c.1702+1587A>G rs116233183 0.01521
NM_001032221.6(STXBP1):c.1030-65C>G rs58905669 0.01517
NM_001032221.6(STXBP1):c.1360-291C>T rs58261423 0.01517
NM_001032221.6(STXBP1):c.87+159T>C rs72769835 0.01399
NM_001032221.6(STXBP1):c.663+17C>T rs140247913 0.01395
NM_001032221.6(STXBP1):c.903-177T>A rs144767053 0.01391
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01315
NM_001032221.6(STXBP1):c.1461+151C>T rs79786672 0.01313
NM_001032221.6(STXBP1):c.1703-163C>T rs116088144 0.01263
NM_001032221.6(STXBP1):c.430-138G>A rs145639237 0.00951
NM_001032221.6(STXBP1):c.430-139T>A rs139895327 0.00946
NM_001032221.6(STXBP1):c.1029+296T>C rs76431389 0.00914
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
NM_001032221.6(STXBP1):c.88-169T>C rs114295222 0.00805
NM_001032221.6(STXBP1):c.903-299G>T rs186586991 0.00777
NM_001032221.6(STXBP1):c.903-301C>T rs182318098 0.00776
NM_001032221.6(STXBP1):c.1702+39C>T rs17849185 0.00536
NM_001032221.6(STXBP1):c.902+303A>G rs143876177 0.00348
NM_001032221.6(STXBP1):c.38-250C>T rs141778553 0.00345
NM_001032221.6(STXBP1):c.795-38A>G rs147069788 0.00329
NM_001032221.6(STXBP1):c.795-41T>C rs186338327 0.00326
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001032221.6(STXBP1):c.794+42C>T rs17849182 0.00201
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001032221.6(STXBP1):c.170-48G>A rs182862523 0.00152
NM_001032221.6(STXBP1):c.902+15C>T rs199534789 0.00109
NM_001032221.6(STXBP1):c.1359+15C>T rs374034782 0.00106
NM_001032221.6(STXBP1):c.1702+11G>A rs201977618 0.00092
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00059
NM_001032221.6(STXBP1):c.169+35G>C rs182062372 0.00058
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001032221.6(STXBP1):c.794+21C>T rs184810503 0.00052
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_001032221.6(STXBP1):c.663+42C>T rs375814365 0.00039
NM_001032221.6(STXBP1):c.964-23A>G rs114421260 0.00039
NM_001032221.6(STXBP1):c.1359+52T>C rs375328683 0.00038
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_001032221.6(STXBP1):c.1703-102T>C rs750631170 0.00024
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001032221.6(STXBP1):c.902+9C>A rs200737004 0.00016
NM_001032221.6(STXBP1):c.903-4C>G rs369625158 0.00016
NM_001032221.6(STXBP1):c.1462-12T>C rs370261480 0.00015
NM_001032221.6(STXBP1):c.902+34G>A rs191638129 0.00014
NM_001032221.6(STXBP1):c.1702+1765G>A rs753613114 0.00013
NM_001032221.6(STXBP1):c.282G>T (p.Pro94=) rs140873342 0.00013
NM_001032221.6(STXBP1):c.1250-20C>T rs368217811 0.00012
NM_001032221.6(STXBP1):c.170-9G>T rs769006053 0.00012
NM_001032221.6(STXBP1):c.247-23C>T rs762436097 0.00012
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=) rs972703931 0.00011
NM_001032221.6(STXBP1):c.1385C>T (p.Pro462Leu) rs752394761 0.00007
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001032221.6(STXBP1):c.1548-15C>A rs772320382 0.00007
NM_001032221.6(STXBP1):c.663+20C>T rs373714441 0.00007
NM_001032221.6(STXBP1):c.1302G>A (p.Pro434=) rs142021261 0.00006
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.246+15A>G rs369881520 0.00005
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu) rs200802985 0.00005
NM_001032221.6(STXBP1):c.1250-19G>A rs370856785 0.00004
NM_001032221.6(STXBP1):c.1359+16A>C rs778666479 0.00004
NM_001032221.6(STXBP1):c.1542C>T (p.Ala514=) rs146226703 0.00004
NM_001032221.6(STXBP1):c.156C>T (p.Thr52=) rs767019310 0.00004
NM_001032221.6(STXBP1):c.430-9C>T rs748770943 0.00004
NM_001032221.6(STXBP1):c.619G>A (p.Asp207Asn) rs770664446 0.00004
NM_001032221.6(STXBP1):c.902+18C>G rs374633678 0.00004
NM_001032221.6(STXBP1):c.1287C>T (p.His429=) rs200002286 0.00003
NM_001032221.6(STXBP1):c.1539C>T (p.Thr513=) rs751251068 0.00003
NM_001032221.6(STXBP1):c.222G>A (p.Val74=) rs778677057 0.00003
NM_001032221.6(STXBP1):c.326-12T>C rs372027286 0.00003
NM_001032221.6(STXBP1):c.417G>T (p.Pro139=) rs931563377 0.00003
NM_001032221.6(STXBP1):c.552G>A (p.Lys184=) rs759620661 0.00003
NM_001032221.6(STXBP1):c.660G>A (p.Gly220=) rs536049754 0.00003
NM_001032221.6(STXBP1):c.1341C>T (p.Gly447=) rs367980635 0.00002
NM_001032221.6(STXBP1):c.1462-13C>G rs199700009 0.00002
NM_001032221.6(STXBP1):c.255C>T (p.His85=) rs768884290 0.00002
NM_001032221.6(STXBP1):c.429+3G>A rs368213197 0.00002
NM_001032221.6(STXBP1):c.1083C>T (p.Thr361=) rs866871870 0.00001
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile) rs1046891783 0.00001
NM_001032221.6(STXBP1):c.1107G>A (p.Glu369=) rs376244106 0.00001
NM_001032221.6(STXBP1):c.1250-7C>T rs1323549123 0.00001
NM_001032221.6(STXBP1):c.1250G>A (p.Gly417Asp) rs796053369 0.00001
NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met) rs748965227 0.00001
NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr) rs148131665 0.00001
NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu) rs773261815 0.00001
NM_001032221.6(STXBP1):c.1365G>A (p.Thr455=) rs767843953 0.00001
NM_001032221.6(STXBP1):c.1461+12G>A rs369896782 0.00001
NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His) rs796053372 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.1659C>T (p.Ala553=) rs772279866 0.00001
NM_001032221.6(STXBP1):c.168G>A (p.Thr56=) rs1241441075 0.00001
NM_001032221.6(STXBP1):c.169+14C>T rs755773785 0.00001
NM_001032221.6(STXBP1):c.1702+1799C>T rs1057523938 0.00001
NM_001032221.6(STXBP1):c.1702+9C>T rs1026137028 0.00001
NM_001032221.6(STXBP1):c.237A>T (p.Pro79=) rs758203394 0.00001
NM_001032221.6(STXBP1):c.246+12A>G rs770867031 0.00001
NM_001032221.6(STXBP1):c.249C>T (p.Ser83=) rs756273104 0.00001
NM_001032221.6(STXBP1):c.285G>A (p.Pro95=) rs773724420 0.00001
NM_001032221.6(STXBP1):c.419A>G (p.Tyr140Cys) rs774228113 0.00001
NM_001032221.6(STXBP1):c.429+12T>C rs1057522202 0.00001
NM_001032221.6(STXBP1):c.531G>A (p.Ala177=) rs1057520999 0.00001
NM_001032221.6(STXBP1):c.547C>T (p.Leu183=) rs753725349 0.00001
NM_001032221.6(STXBP1):c.578+11G>T rs201797980 0.00001
NM_001032221.6(STXBP1):c.675G>A (p.Lys225=) rs1554777466 0.00001
NM_001032221.6(STXBP1):c.795-14C>T rs754375406 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001032221.6(STXBP1):c.852C>T (p.Asp284=) rs141782684 0.00001
NM_001032221.6(STXBP1):c.855C>T (p.Asp285=) rs143755818 0.00001
NM_001032221.6(STXBP1):c.903G>A (p.Gln301=) rs1364462270 0.00001
NM_001032221.6(STXBP1):c.914G>A (p.Arg305Gln) rs763559860 0.00001
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=) rs377721017 0.00001
GRCh37/hg19 9q34.11(chr9:130373225-130453427)x1
GRCh37/hg19 9q34.11(chr9:130415943-130420935)x1
GRCh37/hg19 9q34.11(chr9:130420443-130420935)x1
GRCh37/hg19 9q34.11(chr9:130430429-130430704)x1
NM_001032221.6(STXBP1):c.*5del (p.Ter595=) rs752807764
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser) rs1085307916
NM_001032221.6(STXBP1):c.1012C>T (p.Gln338Ter) rs1057517856
NM_001032221.6(STXBP1):c.1017A>G (p.Lys339=) rs1554778140
NM_001032221.6(STXBP1):c.1029+300del rs370276178
NM_001032221.6(STXBP1):c.1030-1G>T rs796053364
NM_001032221.6(STXBP1):c.1051G>A (p.Ala351Thr)
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg) rs886041337
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr) rs796053365
NM_001032221.6(STXBP1):c.1075C>T (p.Gln359Ter) rs1554778215
NM_001032221.6(STXBP1):c.1077A>G (p.Gln359=) rs1554778217
NM_001032221.6(STXBP1):c.107T>G (p.Leu36Ter) rs1085307900
NM_001032221.6(STXBP1):c.1093C>T (p.Leu365Phe) rs796053358
NM_001032221.6(STXBP1):c.1095_1096del (p.Cys366fs) rs1057518154
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1110+5G>C
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1169_1175dup (p.Ile393fs) rs796053384
NM_001032221.6(STXBP1):c.1193A>G (p.Asn398Ser) rs750585484
NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs) rs1064793414
NM_001032221.6(STXBP1):c.1213A>G (p.Ile405Val) rs1554778428
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu) rs886041246
NM_001032221.6(STXBP1):c.1249+9G>A rs372869649
NM_001032221.6(STXBP1):c.1249+9G>C rs372869649
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.124del (p.Ser42fs) rs796053380
NM_001032221.6(STXBP1):c.1250-19G>C rs370856785
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.1296dup (p.Pro433fs) rs796053385
NM_001032221.6(STXBP1):c.1359+1G>A rs796053370
NM_001032221.6(STXBP1):c.1360-2A>G rs1057522982
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs) rs1554778657
NM_001032221.6(STXBP1):c.1383_1388delinsC (p.Lys461fs) rs1588346359
NM_001032221.6(STXBP1):c.1399C>T (p.Arg467Cys)
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1448A>G (p.Lys483Arg)
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=) rs1462537561
NM_001032221.6(STXBP1):c.1461G>C (p.Glu487Asp) rs1554778676
NM_001032221.6(STXBP1):c.1462-2A>G rs2131528253
NM_001032221.6(STXBP1):c.1470del (p.Ile490fs) rs796053391
NM_001032221.6(STXBP1):c.1478A>C (p.Lys493Thr) rs2131528321
NM_001032221.6(STXBP1):c.148dup (p.Ile50fs) rs1057518167
NM_001032221.6(STXBP1):c.1504A>G (p.Ile502Val) rs1554778812
NM_001032221.6(STXBP1):c.1510del (p.Thr504fs) rs796053392
NM_001032221.6(STXBP1):c.1532_1534del (p.Ser511del) rs2131528620
NM_001032221.6(STXBP1):c.1547+272_1547+277del rs369318816
NM_001032221.6(STXBP1):c.1548-18TC[2] rs148316151
NM_001032221.6(STXBP1):c.1548-18TC[3] rs148316151
NM_001032221.6(STXBP1):c.1548-21_1548-20del rs145978705
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr) rs1057518123
NM_001032221.6(STXBP1):c.1549G>T (p.Ala517Ser) rs1057518123
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs) rs1554778928
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs) rs1554778930
NM_001032221.6(STXBP1):c.1607_1608del (p.Arg536fs) rs1588354779
NM_001032221.6(STXBP1):c.1611CAT[1] (p.Ile539del) rs796053386
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) rs1842044505
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp) rs1057523381
NM_001032221.6(STXBP1):c.164T>C (p.Ile55Thr) rs2132444862
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.1652G>C (p.Arg551Pro) rs796053374
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu) rs796053374
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr) rs2131536069
NM_001032221.6(STXBP1):c.1662delinsAA (p.Tyr554Ter) rs1588355023
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter) rs796053376
NM_001032221.6(STXBP1):c.1681G>A (p.Gly561Arg) rs369960553
NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter) rs1057520544
NM_001032221.6(STXBP1):c.169+141G>C rs17849175
NM_001032221.6(STXBP1):c.169+18A>C rs377086674
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.1702+1555del rs138485176
NM_001032221.6(STXBP1):c.1702+1654A>C rs4836575
NM_001032221.6(STXBP1):c.1702+1654A>G rs4836575
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.1702+31C>T rs200592361
NM_001032221.6(STXBP1):c.171T>C (p.Ile57=) rs1554776675
NM_001032221.6(STXBP1):c.1726C>T (p.Gln576Ter) rs2131561363
NM_001032221.6(STXBP1):c.1726del (p.Gln576fs) rs796053393
NM_001032221.6(STXBP1):c.1732C>G (p.Leu578Val)
NM_001032221.6(STXBP1):c.174G>T (p.Val58=) rs1057524034
NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys) rs2132460743
NM_001032221.6(STXBP1):c.1767T>A (p.Asp589Glu) rs974441233
NM_001032221.6(STXBP1):c.1777A>C (p.Ser593Arg) rs2131561521
NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys) rs754668616
NM_001032221.6(STXBP1):c.218C>A (p.Ala73Asp) rs1554776686
NM_001032221.6(STXBP1):c.247-13C>G rs763971558
NM_001032221.6(STXBP1):c.247-16dup rs746722135
NM_001032221.6(STXBP1):c.247-9del rs776049050
NM_001032221.6(STXBP1):c.247-9dup rs776049050
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.267T>C (p.Ser89=) rs1554776832
NM_001032221.6(STXBP1):c.294del (p.Lys98fs) rs1588306826
NM_001032221.6(STXBP1):c.325+226G>A rs112955814
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032221.6(STXBP1):c.325+4A>C rs2131451091
NM_001032221.6(STXBP1):c.326-4G>A rs1057522113
NM_001032221.6(STXBP1):c.326-95del rs372510099
NM_001032221.6(STXBP1):c.326-95dup rs372510099
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.38-14_38-13del rs768774516
NM_001032221.6(STXBP1):c.38-30CT[7] rs755475986
NM_001032221.6(STXBP1):c.388_389del (p.Leu130fs) rs796053390
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.395_406del (p.Glu132_Ile135del) rs2131455052
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.417G>A (p.Pro139=) rs931563377
NM_001032221.6(STXBP1):c.420T>A (p.Tyr140Ter) rs1064796989
NM_001032221.6(STXBP1):c.430-1G>T rs796053354
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.451G>A (p.Asp151Asn) rs2131462425
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.578+1G>T rs796053357
NM_001032221.6(STXBP1):c.578+1dup rs796053382
NM_001032221.6(STXBP1):c.579-2A>G rs112111568
NM_001032221.6(STXBP1):c.586A>T (p.Lys196Ter) rs1564351084
NM_001032221.6(STXBP1):c.616C>T (p.Gln206Ter) rs2131469253
NM_001032221.6(STXBP1):c.634delinsCAACAATGATG (p.Tyr212delinsGlnGlnTer) rs886042031
NM_001032221.6(STXBP1):c.662dup (p.Asp224fs) rs886041917
NM_001032221.6(STXBP1):c.664-13T>C rs1554777463
NM_001032221.6(STXBP1):c.664-326C>T rs73599683
NM_001032221.6(STXBP1):c.681C>G (p.Arg227=) rs553892771
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter) rs1554777470
NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn) rs1085308022
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.707G>A (p.Gly236Asp) rs1554777474
NM_001032221.6(STXBP1):c.709_715del (p.Phe237fs) rs1064795999
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_001032221.6(STXBP1):c.748C>T (p.Gln250Ter) rs1064796720
NM_001032221.6(STXBP1):c.767T>C (p.Leu256Pro) rs1057524834
NM_001032221.6(STXBP1):c.767TGC[3] (p.Leu257dup) rs1554777488
NM_001032221.6(STXBP1):c.768G>T (p.Leu256=) rs1057524216
NM_001032221.6(STXBP1):c.794+5G>A rs1057520631
NM_001032221.6(STXBP1):c.798T>C (p.Tyr266=) rs751170778
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro) rs2131481488
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001032221.6(STXBP1):c.84G>A (p.Trp28Ter) rs1064793984
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.872T>C (p.Leu291Pro) rs1131691928
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.877C>T (p.His293Tyr) rs1057517880
NM_001032221.6(STXBP1):c.88-17G>A rs1057522112
NM_001032221.6(STXBP1):c.88-2A>C rs796053351
NM_001032221.6(STXBP1):c.88-2A>G rs796053351
NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr) rs1064794322
NM_001032221.6(STXBP1):c.889G>T (p.Ala297Ser)
NM_001032221.6(STXBP1):c.897_898del (p.Ser300fs) rs796053383
NM_001032221.6(STXBP1):c.902+10C>A rs760108945
NM_001032221.6(STXBP1):c.902+11C>G rs940389412
NM_001032221.6(STXBP1):c.902+19C>A rs767072467
NM_001032221.6(STXBP1):c.902+1G>C rs886041978
NM_001032221.6(STXBP1):c.902+4A>G rs1554777733
NM_001032221.6(STXBP1):c.904G>T (p.Glu302Ter) rs796053362
NM_001032221.6(STXBP1):c.963+1G>T rs1085307465
NM_001032221.6(STXBP1):c.964-13dup rs1554778131
NM_001032221.6(STXBP1):c.964-15del rs753893576
NM_001032221.6(STXBP1):c.964-5T>A rs1057524123
NM_001032221.6(STXBP1):c.974G>A (p.Arg325Gln) rs1174793467
NM_001032221.6(STXBP1):c.981_987delinsTCAGCACC (p.Ser328fs) rs1588332693
NM_001032221.6(STXBP1):c.997A>G (p.Lys333Glu) rs796053363
NM_003165.6(STXBP1):c.*16+2T>C rs776179939
NM_003165.6(STXBP1):c.1708A>G (p.Thr570Ala) rs1131691742
NM_003165.6(STXBP1):c.1754C>A (p.Pro585His) rs1554779134
NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn) rs749807465
NM_003165.6(STXBP1):c.1794G>A (p.Gln598=) rs1842137854

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