ClinVar Miner

List of variants in gene STXBP1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 425
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
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.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.903-177T>A rs144767053 0.01275
NM_001032221.6(STXBP1):c.1703-163C>T rs116088144 0.01263
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01254
NM_001032221.6(STXBP1):c.1461+151C>T rs79786672 0.01250
NM_001032221.6(STXBP1):c.430-138G>A rs145639237 0.00986
NM_001032221.6(STXBP1):c.430-139T>A rs139895327 0.00946
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00833
NM_001032221.6(STXBP1):c.1029+296T>C rs76431389 0.00818
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.902+303A>G rs143876177 0.00330
NM_001032221.6(STXBP1):c.38-250C>T rs141778553 0.00328
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00318
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00150
NM_001032221.6(STXBP1):c.1702+1401C>T rs143950200 0.00128
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00079
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00054
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00048
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_001032221.6(STXBP1):c.964-23A>G rs114421260 0.00036
NM_001032221.6(STXBP1):c.1359+52T>C rs375328683 0.00035
NM_001032221.6(STXBP1):c.1703-102T>C rs750631170 0.00024
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00019
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.281C>T (p.Pro94Leu) rs200802985 0.00015
NM_001032221.6(STXBP1):c.1702+1765G>A rs753613114 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.1350C>T (p.Ile450=) rs371948798 0.00011
NM_001032221.6(STXBP1):c.282G>T (p.Pro94=) rs140873342 0.00011
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=) rs972703931 0.00009
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.1257G>A (p.Thr419=) rs377751165 0.00006
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.1386G>A (p.Pro462=) rs201146381 0.00006
NM_001032221.6(STXBP1):c.201G>A (p.Pro67=) rs377398330 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001032221.6(STXBP1):c.1335C>T (p.His445=) rs372348815 0.00005
NM_001032221.6(STXBP1):c.1455C>T (p.Ile485=) rs780944199 0.00005
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.247-10C>G rs376599576 0.00005
NM_001032221.6(STXBP1):c.1250-19G>A rs370856785 0.00004
NM_001032221.6(STXBP1):c.132C>T (p.Cys44=) rs373660650 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.1683A>G (p.Gly561=) rs200525496 0.00004
NM_001032221.6(STXBP1):c.297C>T (p.Tyr99=) rs149736085 0.00004
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln) rs374269726 0.00004
NM_001032221.6(STXBP1):c.660G>A (p.Gly220=) rs536049754 0.00004
NM_001032221.6(STXBP1):c.783T>C (p.Asn261=) rs955182405 0.00004
NM_001032221.6(STXBP1):c.902+18C>G rs374633678 0.00004
NM_001032221.6(STXBP1):c.1182G>A (p.Leu394=) rs767697287 0.00003
NM_001032221.6(STXBP1):c.1287C>T (p.His429=) rs200002286 0.00003
NM_001032221.6(STXBP1):c.1331C>T (p.Ala444Val) rs1216426174 0.00003
NM_001032221.6(STXBP1):c.1539C>T (p.Thr513=) rs751251068 0.00003
NM_001032221.6(STXBP1):c.1702+7G>C rs763504927 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.393G>A (p.Thr131=) rs750333978 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.578+11G>T rs201797980 0.00003
NM_001032221.6(STXBP1):c.1030-16T>C rs764937444 0.00002
NM_001032221.6(STXBP1):c.1176C>T (p.Pro392=) rs761877651 0.00002
NM_001032221.6(STXBP1):c.1341C>T (p.Gly447=) rs367980635 0.00002
NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=) rs746719502 0.00002
NM_001032221.6(STXBP1):c.1462-13C>G rs199700009 0.00002
NM_001032221.6(STXBP1):c.1632T>C (p.Gly544=) rs748307696 0.00002
NM_001032221.6(STXBP1):c.1674G>A (p.Gln558=) rs1842048227 0.00002
NM_001032221.6(STXBP1):c.170-18G>T rs776035456 0.00002
NM_001032221.6(STXBP1):c.1702+15T>A rs369013547 0.00002
NM_001032221.6(STXBP1):c.246+12A>G rs770867031 0.00002
NM_001032221.6(STXBP1):c.255C>T (p.His85=) rs768884290 0.00002
NM_001032221.6(STXBP1):c.365G>A (p.Arg122Gln) rs773885228 0.00002
NM_001032221.6(STXBP1):c.429+3G>A rs368213197 0.00002
NM_001032221.6(STXBP1):c.795-13G>A rs376945679 0.00002
NM_001032221.6(STXBP1):c.88-20G>A rs760947759 0.00002
NM_001032221.6(STXBP1):c.885C>T (p.His295=) rs550123888 0.00002
NM_001032221.6(STXBP1):c.902+10C>T rs760108945 0.00002
NM_001032221.6(STXBP1):c.1030-19C>G rs759226955 0.00001
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.1110+11C>T rs1841617852 0.00001
NM_001032221.6(STXBP1):c.1110+18C>T rs1210165692 0.00001
NM_001032221.6(STXBP1):c.1111-8T>C rs1207244961 0.00001
NM_001032221.6(STXBP1):c.1111-9T>C rs1841722030 0.00001
NM_001032221.6(STXBP1):c.1141G>C (p.Glu381Gln) rs762767233 0.00001
NM_001032221.6(STXBP1):c.1170C>T (p.Ile390=) rs2131509902 0.00001
NM_001032221.6(STXBP1):c.1249+10_1249+27del rs1481500212 0.00001
NM_001032221.6(STXBP1):c.1250-7C>T rs1323549123 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.1338C>T (p.Leu446=) rs752950410 0.00001
NM_001032221.6(STXBP1):c.1360-15T>C rs763197862 0.00001
NM_001032221.6(STXBP1):c.1360-7C>T rs895077278 0.00001
NM_001032221.6(STXBP1):c.1365G>A (p.Thr455=) rs767843953 0.00001
NM_001032221.6(STXBP1):c.1373G>A (p.Arg458His) rs796053371 0.00001
NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp) rs750968891 0.00001
NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln) rs1381421236 0.00001
NM_001032221.6(STXBP1):c.1408G>A (p.Glu470Lys) rs1057519539 0.00001
NM_001032221.6(STXBP1):c.145G>C (p.Asp49His) rs1244732832 0.00001
NM_001032221.6(STXBP1):c.1461+12G>A rs369896782 0.00001
NM_001032221.6(STXBP1):c.1461+17A>G rs769830303 0.00001
NM_001032221.6(STXBP1):c.1547+20C>T rs1185348061 0.00001
NM_001032221.6(STXBP1):c.1548-12T>A rs925752750 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.1599T>C (p.Ser533=) rs755906740 0.00001
NM_001032221.6(STXBP1):c.1606C>T (p.Arg536Cys) rs1241329041 0.00001
NM_001032221.6(STXBP1):c.1635G>A (p.Val545=) rs1232546164 0.00001
NM_001032221.6(STXBP1):c.1656C>T (p.Cys552=) rs942940725 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+10C>T rs1060504318 0.00001
NM_001032221.6(STXBP1):c.169+14C>T rs755773785 0.00001
NM_001032221.6(STXBP1):c.1702+12T>C rs767085803 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.198G>A (p.Glu66=) rs916738510 0.00001
NM_001032221.6(STXBP1):c.237A>T (p.Pro79=) rs758203394 0.00001
NM_001032221.6(STXBP1):c.246+8T>C rs746997293 0.00001
NM_001032221.6(STXBP1):c.247-18T>C rs370067916 0.00001
NM_001032221.6(STXBP1):c.247-9C>G rs757257907 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.306A>G (p.Ala102=) rs762715928 0.00001
NM_001032221.6(STXBP1):c.309C>T (p.His103=) rs763763696 0.00001
NM_001032221.6(STXBP1):c.325+10A>G rs1324821635 0.00001
NM_001032221.6(STXBP1):c.326-16T>C rs1450982335 0.00001
NM_001032221.6(STXBP1):c.326-20G>A rs1322794319 0.00001
NM_001032221.6(STXBP1):c.326-4G>A rs1057522113 0.00001
NM_001032221.6(STXBP1):c.339C>T (p.Ala113=) rs1479752313 0.00001
NM_001032221.6(STXBP1):c.405T>C (p.Ile135=) rs760738553 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.42T>C (p.Ile14=) rs755497428 0.00001
NM_001032221.6(STXBP1):c.430-4C>T rs554886945 0.00001
NM_001032221.6(STXBP1):c.430-7T>G rs981193334 0.00001
NM_001032221.6(STXBP1):c.430-9C>T rs748770943 0.00001
NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met) rs1410933215 0.00001
NM_001032221.6(STXBP1):c.512G>A (p.Arg171His) rs773211322 0.00001
NM_001032221.6(STXBP1):c.528C>T (p.Ile176=) rs760681174 0.00001
NM_001032221.6(STXBP1):c.529G>A (p.Ala177Thr) rs1411421913 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.558C>T (p.Tyr186=) rs1841140996 0.00001
NM_001032221.6(STXBP1):c.585C>T (p.Tyr195=) rs1233984755 0.00001
NM_001032221.6(STXBP1):c.597C>T (p.Ala199=) rs367708151 0.00001
NM_001032221.6(STXBP1):c.615C>A (p.Ile205=) rs371910559 0.00001
NM_001032221.6(STXBP1):c.675G>A (p.Lys225=) rs1554777466 0.00001
NM_001032221.6(STXBP1):c.690C>T (p.Leu230=) rs764186314 0.00001
NM_001032221.6(STXBP1):c.729G>A (p.Val243=) rs1588319621 0.00001
NM_001032221.6(STXBP1):c.75G>A (p.Lys25=) rs1410513659 0.00001
NM_001032221.6(STXBP1):c.794+10G>C rs767890257 0.00001
NM_001032221.6(STXBP1):c.795-14C>T rs754375406 0.00001
NM_001032221.6(STXBP1):c.795-18G>A rs1330076181 0.00001
NM_001032221.6(STXBP1):c.797A>G (p.Tyr266Cys) rs2131481245 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001032221.6(STXBP1):c.813C>T (p.Ile271=) rs965524767 0.00001
NM_001032221.6(STXBP1):c.823C>T (p.Arg275Trp) rs780641675 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.856G>A (p.Asp286Asn) rs768644260 0.00001
NM_001032221.6(STXBP1):c.861G>A (p.Leu287=) rs984512975 0.00001
NM_001032221.6(STXBP1):c.902+7G>C rs761007581 0.00001
NM_001032221.6(STXBP1):c.903G>A (p.Gln301=) rs1364462270 0.00001
NM_001032221.6(STXBP1):c.942G>A (p.Lys314=) rs1257587761 0.00001
NM_001032221.6(STXBP1):c.963+12C>G rs1459109057 0.00001
NM_001032221.6(STXBP1):c.964-20T>G rs1400203790 0.00001
NM_001032221.6(STXBP1):c.975G>A (p.Arg325=) rs1376618964 0.00001
NM_001032221.6(STXBP1):c.99G>A (p.Val33=) rs761031235 0.00001
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=) rs377721017 0.00001
NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser) rs757607352 0.00001
NM_003165.6(STXBP1):c.1794G>A (p.Gln598=) rs1842137854 0.00001
NC_000009.11:g.(?_130438063)_(130446756_?)dup
NC_000009.12:g.(?_127668060)_(127684497_?)dup
NM_001032221.6(STXBP1):c.*5del (p.Ter595=) rs752807764
NM_001032221.6(STXBP1):c.*812_*815del rs376502400
NM_001032221.6(STXBP1):c.1017A>G (p.Lys339=) rs1554778140
NM_001032221.6(STXBP1):c.1029+19A>T rs2538553196
NM_001032221.6(STXBP1):c.1029+300del rs370276178
NM_001032221.6(STXBP1):c.1029+8A>G rs2131497514
NM_001032221.6(STXBP1):c.1030-5C>G rs2538558394
NM_001032221.6(STXBP1):c.1032C>T (p.Tyr344=)
NM_001032221.6(STXBP1):c.1077A>G (p.Gln359=) rs1554778217
NM_001032221.6(STXBP1):c.1086A>G (p.Val362=) rs781470823
NM_001032221.6(STXBP1):c.1098C>T (p.Cys366=) rs2131501402
NM_001032221.6(STXBP1):c.1104G>A (p.Val368=) rs1263258182
NM_001032221.6(STXBP1):c.1109A>G (p.Gln370Arg) rs2538559163
NM_001032221.6(STXBP1):c.1110+14_1110+16del
NM_001032221.6(STXBP1):c.1110+14_1110+17del rs2538559494
NM_001032221.6(STXBP1):c.1110+7C>T
NM_001032221.6(STXBP1):c.1111-11G>A rs2538570627
NM_001032221.6(STXBP1):c.1111-15G>C rs192041574
NM_001032221.6(STXBP1):c.1111-16G>A
NM_001032221.6(STXBP1):c.1111-7T>C rs2538570683
NM_001032221.6(STXBP1):c.1114C>A (p.Leu372Met) rs1841722496
NM_001032221.6(STXBP1):c.1116G>C (p.Leu372=) rs2538570780
NM_001032221.6(STXBP1):c.1124G>A (p.Gly375Asp) rs2131509770
NM_001032221.6(STXBP1):c.1164A>G (p.Arg388=) rs1254150561
NM_001032221.6(STXBP1):c.1167C>T (p.Ala389=) rs2538571061
NM_001032221.6(STXBP1):c.1200C>T (p.Ser400=) rs2131510012
NM_001032221.6(STXBP1):c.1206T>C (p.Tyr402=) rs780284511
NM_001032221.6(STXBP1):c.123G>A (p.Leu41=) rs766840783
NM_001032221.6(STXBP1):c.123G>C (p.Leu41=) rs766840783
NM_001032221.6(STXBP1):c.1249+19G>A rs769217385
NM_001032221.6(STXBP1):c.1249+19G>C
NM_001032221.6(STXBP1):c.1249+9G>A rs372869649
NM_001032221.6(STXBP1):c.1249+9G>C rs372869649
NM_001032221.6(STXBP1):c.1250-10G>T
NM_001032221.6(STXBP1):c.1250-15G>A rs2538575785
NM_001032221.6(STXBP1):c.1250-17G>C rs1477546983
NM_001032221.6(STXBP1):c.1250-19G>C rs370856785
NM_001032221.6(STXBP1):c.1250-19G>T rs370856785
NM_001032221.6(STXBP1):c.1250-20C>G rs368217811
NM_001032221.6(STXBP1):c.1254C>T (p.Ile418=) rs2131513094
NM_001032221.6(STXBP1):c.1260G>A (p.Glu420=) rs1564354858
NM_001032221.6(STXBP1):c.1281C>G (p.Ile427Met) rs1329067269
NM_001032221.6(STXBP1):c.1288G>T (p.Ala430Ser) rs148131665
NM_001032221.6(STXBP1):c.1299C>A (p.Pro433=) rs2538576291
NM_001032221.6(STXBP1):c.1305G>A (p.Glu435=) rs1841768984
NM_001032221.6(STXBP1):c.1326C>T (p.Asn442=) rs2538576651
NM_001032221.6(STXBP1):c.1338C>A (p.Leu446=) rs752950410
NM_001032221.6(STXBP1):c.134G>T (p.Cys45Phe) rs1840656429
NM_001032221.6(STXBP1):c.1359+7G>T rs1841774104
NM_001032221.6(STXBP1):c.1360-10G>A rs2131521467
NM_001032221.6(STXBP1):c.1360-17T>C rs1258728704
NM_001032221.6(STXBP1):c.1360-18G>C rs558843667
NM_001032221.6(STXBP1):c.1360-18G>T rs558843667
NM_001032221.6(STXBP1):c.1360-5T>C
NM_001032221.6(STXBP1):c.1362C>G (p.Ser454=)
NM_001032221.6(STXBP1):c.1366C>T (p.Leu456=) rs1841863163
NM_001032221.6(STXBP1):c.1377G>C (p.Arg459=) rs2538588702
NM_001032221.6(STXBP1):c.1386G>T (p.Pro462=) rs201146381
NM_001032221.6(STXBP1):c.1390C>T (p.Arg464Trp) rs1239532436
NM_001032221.6(STXBP1):c.1398A>G (p.Glu466=) rs1046520263
NM_001032221.6(STXBP1):c.1440G>A (p.Pro480=) rs770793946
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=) rs1462537561
NM_001032221.6(STXBP1):c.1461+10G>A rs1453106879
NM_001032221.6(STXBP1):c.1462-10T>C rs2538599346
NM_001032221.6(STXBP1):c.1462-20T>A
NM_001032221.6(STXBP1):c.1467T>C (p.Thr489=) rs2538599413
NM_001032221.6(STXBP1):c.147C>T (p.Asp49=) rs1373609182
NM_001032221.6(STXBP1):c.1490A>G (p.Lys497Arg) rs2131528378
NM_001032221.6(STXBP1):c.1503T>C (p.Tyr501=) rs1841946692
NM_001032221.6(STXBP1):c.1504A>G (p.Ile502Val) rs1554778812
NM_001032221.6(STXBP1):c.1547+272_1547+277del rs369318816
NM_001032221.6(STXBP1):c.1548-11C>G rs1564357060
NM_001032221.6(STXBP1):c.1548-13C>T rs2538611557
NM_001032221.6(STXBP1):c.1548-18TC[2] rs148316151
NM_001032221.6(STXBP1):c.1548-18TC[3] rs148316151
NM_001032221.6(STXBP1):c.1548-18TC[4] rs148316151
NM_001032221.6(STXBP1):c.1548-19_1548-18del rs1247908522
NM_001032221.6(STXBP1):c.1548-6dup
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.1548-7_1548-6del rs761627099
NM_001032221.6(STXBP1):c.1548-8_1548-3del rs768558279
NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr) rs1057518123
NM_001032221.6(STXBP1):c.1554C>T (p.Arg518=) rs1842038293
NM_001032221.6(STXBP1):c.1593C>T (p.Tyr531=) rs767199598
NM_001032221.6(STXBP1):c.1605C>T (p.Pro535=) rs779926394
NM_001032221.6(STXBP1):c.1623C>A (p.Ile541=) rs1278265158
NM_001032221.6(STXBP1):c.1633G>A (p.Val545Met) rs2538612668
NM_001032221.6(STXBP1):c.1647G>A (p.Glu549=) rs2538612824
NM_001032221.6(STXBP1):c.169+10C>A rs1060504318
NM_001032221.6(STXBP1):c.169+11G>A rs1199862267
NM_001032221.6(STXBP1):c.169+18A>C rs377086674
NM_001032221.6(STXBP1):c.169+18A>G
NM_001032221.6(STXBP1):c.169+6C>T rs2539778386
NM_001032221.6(STXBP1):c.169+8T>C rs2539778402
NM_001032221.6(STXBP1):c.170-18G>A rs776035456
NM_001032221.6(STXBP1):c.1702+1555del rs138485176
NM_001032221.6(STXBP1):c.1702+1654A>C rs4836575
NM_001032221.6(STXBP1):c.1702+1790G>A rs2538624057
NM_001032221.6(STXBP1):c.1702+1794C>G rs2131542998
NM_001032221.6(STXBP1):c.1702+1801C>T rs2131543011
NM_001032221.6(STXBP1):c.1702+1803C>T
NM_001032221.6(STXBP1):c.171T>C (p.Ile57=) rs1554776675
NM_001032221.6(STXBP1):c.182T>C (p.Ile61Thr) rs2539791994
NM_001032221.6(STXBP1):c.201G>T (p.Pro67=) rs377398330
NM_001032221.6(STXBP1):c.207C>T (p.Pro69=) rs1417891697
NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys) rs754668616
NM_001032221.6(STXBP1):c.216G>A (p.Glu72=) rs2132460966
NM_001032221.6(STXBP1):c.234T>G (p.Thr78=) rs1564348777
NM_001032221.6(STXBP1):c.240C>T (p.Ser80=) rs564021862
NM_001032221.6(STXBP1):c.246+14C>A rs1840869103
NM_001032221.6(STXBP1):c.247-11C>G rs1344825378
NM_001032221.6(STXBP1):c.247-11C>T rs1344825378
NM_001032221.6(STXBP1):c.247-13C>G rs763971558
NM_001032221.6(STXBP1):c.247-13C>T rs763971558
NM_001032221.6(STXBP1):c.247-15C>T
NM_001032221.6(STXBP1):c.247-16dup rs746722135
NM_001032221.6(STXBP1):c.247-17T>C rs375660738
NM_001032221.6(STXBP1):c.247-9C>A rs757257907
NM_001032221.6(STXBP1):c.247-9del rs776049050
NM_001032221.6(STXBP1):c.247-9dup rs776049050
NM_001032221.6(STXBP1):c.249C>G (p.Ser83=) rs756273104
NM_001032221.6(STXBP1):c.267T>C (p.Ser89=) rs1554776832
NM_001032221.6(STXBP1):c.282G>A (p.Pro94=)
NM_001032221.6(STXBP1):c.285G>T (p.Pro95=) rs773724420
NM_001032221.6(STXBP1):c.300G>A (p.Arg100=) rs2539799045
NM_001032221.6(STXBP1):c.325+12C>T
NM_001032221.6(STXBP1):c.325+226G>A rs112955814
NM_001032221.6(STXBP1):c.326-10A>G rs772431982
NM_001032221.6(STXBP1):c.326-13G>A rs1384127907
NM_001032221.6(STXBP1):c.326-95del rs372510099
NM_001032221.6(STXBP1):c.369A>C (p.Ala123=)
NM_001032221.6(STXBP1):c.38-14_38-13del rs768774516
NM_001032221.6(STXBP1):c.38-5T>C rs2132436505
NM_001032221.6(STXBP1):c.38-7T>G rs2132436494
NM_001032221.6(STXBP1):c.381C>A (p.Ile127=) rs767447890
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.408A>G (p.Ala136=) rs2131455159
NM_001032221.6(STXBP1):c.417G>A (p.Pro139=) rs931563377
NM_001032221.6(STXBP1):c.426C>T (p.Ser142=) rs1841030655
NM_001032221.6(STXBP1):c.429+7C>A
NM_001032221.6(STXBP1):c.444C>T (p.Asp148=) rs1841132483
NM_001032221.6(STXBP1):c.453C>T (p.Asp151=) rs1472846336
NM_001032221.6(STXBP1):c.456T>G (p.Ser152=) rs2131462456
NM_001032221.6(STXBP1):c.471C>T (p.Tyr157=)
NM_001032221.6(STXBP1):c.486T>A (p.Ala162=) rs2539809357
NM_001032221.6(STXBP1):c.486T>C (p.Ala162=) rs2539809357
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser) rs1841136116
NM_001032221.6(STXBP1):c.510G>A (p.Glu170=) rs1793959490
NM_001032221.6(STXBP1):c.519A>C (p.Ala173=)
NM_001032221.6(STXBP1):c.524A>C (p.Gln175Pro) rs2539809614
NM_001032221.6(STXBP1):c.52G>A (p.Val18Met) rs2132436612
NM_001032221.6(STXBP1):c.546C>T (p.Thr182=)
NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp) rs1841142873
NM_001032221.6(STXBP1):c.578+7C>G
NM_001032221.6(STXBP1):c.579-11T>C
NM_001032221.6(STXBP1):c.579-7T>C rs2131469008
NM_001032221.6(STXBP1):c.60G>A (p.Lys20=) rs2539771437
NM_001032221.6(STXBP1):c.624G>A (p.Lys208=) rs1841237495
NM_001032221.6(STXBP1):c.627C>G (p.Leu209=) rs567071026
NM_001032221.6(STXBP1):c.663+18C>G
NM_001032221.6(STXBP1):c.663+18C>T
NM_001032221.6(STXBP1):c.664-12G>A rs1380678779
NM_001032221.6(STXBP1):c.664-12G>C rs1380678779
NM_001032221.6(STXBP1):c.664-13T>C rs1554777463
NM_001032221.6(STXBP1):c.664-18C>T rs1446778631
NM_001032221.6(STXBP1):c.669A>C (p.Pro223=) rs2539820025
NM_001032221.6(STXBP1):c.681C>T (p.Arg227=) rs553892771
NM_001032221.6(STXBP1):c.690C>G (p.Leu230=) rs764186314
NM_001032221.6(STXBP1):c.699G>A (p.Leu233=) rs2539820297
NM_001032221.6(STXBP1):c.70A>G (p.Lys24Glu) rs2132436701
NM_001032221.6(STXBP1):c.717C>G (p.Pro239=)
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val) rs375972545
NM_001032221.6(STXBP1):c.732C>T (p.Leu244=)
NM_001032221.6(STXBP1):c.753T>A (p.Ala251=) rs761987600
NM_001032221.6(STXBP1):c.753T>C (p.Ala251=) rs761987600
NM_001032221.6(STXBP1):c.768G>T (p.Leu256=) rs1057524216
NM_001032221.6(STXBP1):c.778G>A (p.Glu260Lys) rs1841290624
NM_001032221.6(STXBP1):c.786T>G (p.Asp262Glu) rs2131473084
NM_001032221.6(STXBP1):c.794+15A>G rs2539820972
NM_001032221.6(STXBP1):c.795-11C>G rs763693793
NM_001032221.6(STXBP1):c.795-20G>T rs2539827487
NM_001032221.6(STXBP1):c.795-6T>C rs2131481198
NM_001032221.6(STXBP1):c.795-7A>G rs1235519914
NM_001032221.6(STXBP1):c.798T>C (p.Tyr266=) rs751170778
NM_001032221.6(STXBP1):c.809G>T (p.Gly270Val) rs2131481318
NM_001032221.6(STXBP1):c.814G>A (p.Gly272Arg) rs1841382363
NM_001032221.6(STXBP1):c.815G>A (p.Gly272Glu) rs1554777718
NM_001032221.6(STXBP1):c.819G>A (p.Glu273=) rs2539827820
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg) rs1478208887
NM_001032221.6(STXBP1):c.837G>T (p.Val279=) rs2539827948
NM_001032221.6(STXBP1):c.859C>T (p.Leu287=) rs1841385147
NM_001032221.6(STXBP1):c.87+16A>G rs2132436854
NM_001032221.6(STXBP1):c.87+19T>C rs779891014
NM_001032221.6(STXBP1):c.87+21dup
NM_001032221.6(STXBP1):c.87+7A>G rs745510583
NM_001032221.6(STXBP1):c.876C>T (p.Arg292=) rs778838622
NM_001032221.6(STXBP1):c.88-11T>C rs1363749374
NM_001032221.6(STXBP1):c.88-17G>A rs1057522112
NM_001032221.6(STXBP1):c.88-9T>C rs2539777890
NM_001032221.6(STXBP1):c.882G>A (p.Lys294=) rs1325070688
NM_001032221.6(STXBP1):c.888C>A (p.Ile296=) rs201302013
NM_001032221.6(STXBP1):c.891A>T (p.Ala297=) rs2539828258
NM_001032221.6(STXBP1):c.902+10C>A rs760108945
NM_001032221.6(STXBP1):c.902+11C>G rs940389412
NM_001032221.6(STXBP1):c.902+12C>A rs2539828421
NM_001032221.6(STXBP1):c.902+16C>T rs1355689005
NM_001032221.6(STXBP1):c.902+19C>A rs767072467
NM_001032221.6(STXBP1):c.902+9_902+28del rs1588324230
NM_001032221.6(STXBP1):c.903-9A>G rs2539834522
NM_001032221.6(STXBP1):c.903-9A>T rs2539834522
NM_001032221.6(STXBP1):c.912C>T (p.Thr304=) rs2539834723
NM_001032221.6(STXBP1):c.915G>A (p.Arg305=) rs2131488913
NM_001032221.6(STXBP1):c.948G>A (p.Met316Ile) rs1564352598
NM_001032221.6(STXBP1):c.963+10T>G rs2539835323
NM_001032221.6(STXBP1):c.963+9A>T rs2539835315
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.964-8C>A rs1377407938
NM_001032221.6(STXBP1):c.964-9C>G rs1034636066
NM_001032221.6(STXBP1):c.966C>A (p.Thr322=) rs2538552520
NM_001032221.6(STXBP1):c.96G>T (p.Val32=) rs2539777952
NM_001032221.6(STXBP1):c.974G>A (p.Arg325Gln) rs1174793467
NM_003165.6(STXBP1):c.*16+2T>C rs776179939
NM_003165.6(STXBP1):c.1713C>T (p.His571=) rs1053771056
NM_003165.6(STXBP1):c.1752C>T (p.His584=) rs2538624485
NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn) rs749807465
NM_003165.6(STXBP1):c.1803A>G (p.Thr601=) rs2538624964
NM_003165.6(STXBP1):c.1807G>A (p.Glu603Lys)

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