ClinVar Miner

List of variants in gene STXBP1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 273
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 9q34.11(chr9:130363849-130455691)x1
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
GRCh37/hg19 9q34.11(chr9:130431762-130432190)x1
NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del
NC_000009.11:g.(?_130374683)_(130416095_?)del
NC_000009.11:g.(?_130413862)_(130439052_?)del
NC_000009.11:g.(?_130438083)_(130439032_?)del
NC_000009.11:g.(?_130441808)_(130444802_?)del
NC_000009.12:g.(?_127612384)_(127690877_?)del
NC_000009.12:g.(?_127651583)_(127653816_?)del
NC_000009.12:g.(?_127651583)_(127690877_?)del
NC_000009.12:g.(?_127653695)_(127676773_?)del
NC_000009.12:g.(?_127658355)_(127658471_?)del
NC_000009.12:g.(?_127669878)_(127669978_?)del
NC_000009.12:g.127660030_127660059del rs2131450364
NC_000009.12:g.127669899del rs2131488795
NC_000009.12:g.127681712_127692172del
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser) rs1085307916
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_001032221.6(STXBP1):c.1011C>G (p.Tyr337Ter)
NM_001032221.6(STXBP1):c.1012C>T (p.Gln338Ter) rs1057517856
NM_001032221.6(STXBP1):c.1017del (p.Glu340fs) rs1841566082
NM_001032221.6(STXBP1):c.1028del (p.Lys343fs) rs1841566644
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1029+1G>C rs727504173
NM_001032221.6(STXBP1):c.1029+1G>T rs727504173
NM_001032221.6(STXBP1):c.1030-1G>T rs796053364
NM_001032221.6(STXBP1):c.1030-2A>G
NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs) rs1841611480
NM_001032221.6(STXBP1):c.103_119del (p.Gln35fs)
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.1067dup (p.His357fs)
NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter) rs1841613716
NM_001032221.6(STXBP1):c.1074C>G (p.Tyr358Ter)
NM_001032221.6(STXBP1):c.1075C>T (p.Gln359Ter) rs1554778215
NM_001032221.6(STXBP1):c.1079del (p.Gly360fs) rs1841614275
NM_001032221.6(STXBP1):c.107T>G (p.Leu36Ter) rs1085307900
NM_001032221.6(STXBP1):c.1092del (p.Lys364fs) rs1841615616
NM_001032221.6(STXBP1):c.1092dup (p.Leu365fs) rs1841615616
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.1108C>T (p.Gln370Ter) rs2131501460
NM_001032221.6(STXBP1):c.1110+2T>G
NM_001032221.6(STXBP1):c.1110G>A (p.Gln370=) rs1554778227
NM_001032221.6(STXBP1):c.1111-2A>G rs1554778417
NM_001032221.6(STXBP1):c.1153dup (p.Asp385fs) rs1841723344
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.116_118dup (p.Arg39dup) rs1588294498
NM_001032221.6(STXBP1):c.1176del (p.Ile393fs) rs1841724942
NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs) rs1064793414
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.1227_1229del (p.Leu410del) rs2131510168
NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg) rs2132444527
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) rs1588339898
NM_001032221.6(STXBP1):c.1249+1G>A rs1057519189
NM_001032221.6(STXBP1):c.1249+1G>C rs1057519189
NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg) rs2131510237
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.124del (p.Ser42fs) rs796053380
NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter) rs1841766225
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) rs1588341629
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter) rs2131513223
NM_001032221.6(STXBP1):c.1296dup (p.Pro433fs) rs796053385
NM_001032221.6(STXBP1):c.1304del (p.Glu435fs)
NM_001032221.6(STXBP1):c.1305_1312dup (p.Glu438fs)
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)
NM_001032221.6(STXBP1):c.1354dup (p.Thr452fs)
NM_001032221.6(STXBP1):c.1359+1G>A rs796053370
NM_001032221.6(STXBP1):c.1359+1G>T rs796053370
NM_001032221.6(STXBP1):c.1359+2T>C rs1554778509
NM_001032221.6(STXBP1):c.1359+3A>C rs2131513660
NM_001032221.6(STXBP1):c.1359+5G>A rs2131513670
NM_001032221.6(STXBP1):c.1359_1360insC (p.Ser454fs) rs2131521530
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs) rs1554778657
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs) rs1554778657
NM_001032221.6(STXBP1):c.1383_1388delinsC (p.Lys461fs) rs1588346359
NM_001032221.6(STXBP1):c.1392del (p.Lys465fs) rs2131521957
NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter) rs1057519539
NM_001032221.6(STXBP1):c.1419C>A (p.Tyr473Ter)
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1434G>A (p.Trp478Ter) rs1060501722
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)
NM_001032221.6(STXBP1):c.1457T>C (p.Met486Thr)
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs) rs2132444703
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1461+5G>A rs1841870815
NM_001032221.6(STXBP1):c.1462-2A>C
NM_001032221.6(STXBP1):c.1462-2A>G rs2131528253
NM_001032221.6(STXBP1):c.1470del (p.Ile490fs) rs796053391
NM_001032221.6(STXBP1):c.1481_1487del (p.Leu494fs)
NM_001032221.6(STXBP1):c.148_149del (p.Ile50fs)
NM_001032221.6(STXBP1):c.148dup (p.Ile50fs) rs1057518167
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_001032221.6(STXBP1):c.1495_1496dup (p.Pro500fs)
NM_001032221.6(STXBP1):c.1503T>A (p.Tyr501Ter) rs1841946692
NM_001032221.6(STXBP1):c.1510del (p.Thr504fs) rs796053392
NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter) rs1564357089
NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter) rs1057519537
NM_001032221.6(STXBP1):c.1568_1569insAGTACCCA (p.His523fs)
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs) rs1554778928
NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter) rs1842039791
NM_001032221.6(STXBP1):c.1574del (p.Asn525fs) rs1842039949
NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter) rs749965674
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) rs756998073
NM_001032221.6(STXBP1):c.1593C>A (p.Tyr531Ter) rs767199598
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs) rs1554778930
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs) rs1842042825
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.1628G>A (p.Gly543Glu) rs1842044352
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) rs1842044505
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1631del (p.Gly544fs) rs1554778941
NM_001032221.6(STXBP1):c.1641_1642insC (p.Asn548fs) rs2131535952
NM_001032221.6(STXBP1):c.1644del (p.Asn548fs) rs1842045865
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>A (p.Arg551His)
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.1654T>C (p.Cys552Arg) rs1842046459
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr) rs2131536069
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter) rs942940725
NM_001032221.6(STXBP1):c.1662delinsAA (p.Tyr554Ter) rs1588355023
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter) rs796053376
NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs) rs2131536257
NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter) rs1057520544
NM_001032221.6(STXBP1):c.169+1G>A rs587776641
NM_001032221.6(STXBP1):c.170-1G>C rs112002192
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.1702+2T>C
NM_001032221.6(STXBP1):c.1702+2T>G
NM_001032221.6(STXBP1):c.1702G>C (p.Gly568Arg)
NM_001032221.6(STXBP1):c.1726C>T (p.Gln576Ter) rs2131561363
NM_001032221.6(STXBP1):c.1726del (p.Gln576fs) rs796053393
NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys) rs2132460743
NM_001032221.6(STXBP1):c.223T>C (p.Tyr75His)
NM_001032221.6(STXBP1):c.225T>G (p.Tyr75Ter) rs2132461012
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) rs1461664423
NM_001032221.6(STXBP1):c.246+2_325+14del
NM_001032221.6(STXBP1):c.247-1G>A rs1840967817
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.265del (p.Ser89fs) rs1060501723
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His) rs1840970680
NM_001032221.6(STXBP1):c.294del (p.Lys98fs) rs1588306826
NM_001032221.6(STXBP1):c.298del (p.Arg100fs) rs1554776842
NM_001032221.6(STXBP1):c.323_325+1del rs2131451053
NM_001032221.6(STXBP1):c.325+1G>A
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032221.6(STXBP1):c.325+4A>T rs2131451091
NM_001032221.6(STXBP1):c.325+5G>A
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.345del (p.Phe115fs) rs1564349850
NM_001032221.6(STXBP1):c.360del (p.Lys120fs) rs1554776954
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) rs1841026473
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
NM_001032221.6(STXBP1):c.388_389del (p.Leu130fs) rs796053390
NM_001032221.6(STXBP1):c.400_401del (p.Asn134fs) rs886044141
NM_001032221.6(STXBP1):c.416C>A (p.Pro139Gln) rs796053353
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.420T>A (p.Tyr140Ter) rs1064796989
NM_001032221.6(STXBP1):c.429+1G>A
NM_001032221.6(STXBP1):c.429G>A (p.Gln143=) rs1841030849
NM_001032221.6(STXBP1):c.430-1G>A rs796053354
NM_001032221.6(STXBP1):c.430-1G>T rs796053354
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.457_458del (p.Phe153fs)
NM_001032221.6(STXBP1):c.463del (p.Ser155fs) rs1841133653
NM_001032221.6(STXBP1):c.512_513del (p.Arg171fs) rs1841137524
NM_001032221.6(STXBP1):c.520del (p.Glu174fs) rs2131462829
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
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>A rs796053357
NM_001032221.6(STXBP1):c.578+1G>T rs796053357
NM_001032221.6(STXBP1):c.578+1dup rs796053382
NM_001032221.6(STXBP1):c.578G>C (p.Gly193Ala) rs1588313568
NM_001032221.6(STXBP1):c.578G>T (p.Gly193Val) rs1588313568
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.579-1G>C
NM_001032221.6(STXBP1):c.579-2A>G rs112111568
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet) rs1057519538
NM_001032221.6(STXBP1):c.586A>T (p.Lys196Ter) rs1564351084
NM_001032221.6(STXBP1):c.607C>T (p.Gln203Ter) rs1564351103
NM_001032221.6(STXBP1):c.616C>T (p.Gln206Ter) rs2131469253
NM_001032221.6(STXBP1):c.634delinsCAACAATGATG (p.Tyr212delinsGlnGlnTer) rs886042031
NM_001032221.6(STXBP1):c.636T>A (p.Tyr212Ter) rs1841238690
NM_001032221.6(STXBP1):c.636T>G (p.Tyr212Ter) rs1841238690
NM_001032221.6(STXBP1):c.639dup (p.Ala214fs) rs1554777375
NM_001032221.6(STXBP1):c.661del (p.Glu221fs) rs1841239642
NM_001032221.6(STXBP1):c.662dup (p.Asp224fs) rs886041917
NM_001032221.6(STXBP1):c.663+1G>A rs1841240415
NM_001032221.6(STXBP1):c.663+1G>C rs1841240415
NM_001032221.6(STXBP1):c.663+2T>C
NM_001032221.6(STXBP1):c.663+5G>A rs2131469592
NM_001032221.6(STXBP1):c.664-1G>C rs1554777464
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter) rs1554777470
NM_001032221.6(STXBP1):c.692dup (p.Ile232fs) rs1564351388
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
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.704_705insGG (p.Gly236fs) rs1841286087
NM_001032221.6(STXBP1):c.709_715del (p.Phe237fs) rs1064795999
NM_001032221.6(STXBP1):c.733C>A (p.His245Asn) rs1554777480
NM_001032221.6(STXBP1):c.733C>G (p.His245Asp) rs1554777480
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.748C>T (p.Gln250Ter) rs1064796720
NM_001032221.6(STXBP1):c.749A>G (p.Gln250Arg)
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_001032221.6(STXBP1):c.755T>C (p.Met252Thr) rs1841289209
NM_001032221.6(STXBP1):c.785del (p.Asp262fs) rs1841291126
NM_001032221.6(STXBP1):c.78_79dup (p.Glu27fs)
NM_001032221.6(STXBP1):c.792C>A (p.Tyr264Ter) rs1841291684
NM_001032221.6(STXBP1):c.794+1G>A rs1554777496
NM_001032221.6(STXBP1):c.794+5G>A rs1057520631
NM_001032221.6(STXBP1):c.795-1G>A rs1554777708
NM_001032221.6(STXBP1):c.795-2A>C rs2131481227
NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter) rs751170778
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_001032221.6(STXBP1):c.817G>T (p.Glu273Ter) rs1564352002
NM_001032221.6(STXBP1):c.82T>G (p.Trp28Gly)
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.84dup (p.Lys29fs)
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.87+2T>C rs1554775960
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.875G>C (p.Arg292Pro) rs796053361
NM_001032221.6(STXBP1):c.875G>T (p.Arg292Leu) rs796053361
NM_001032221.6(STXBP1):c.88-1G>A
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.897_898del (p.Ser300fs) rs796053383
NM_001032221.6(STXBP1):c.898del (p.Ser300fs) rs2131481907
NM_001032221.6(STXBP1):c.902+1G>A rs886041978
NM_001032221.6(STXBP1):c.902+1G>C rs886041978
NM_001032221.6(STXBP1):c.903-2A>G
NM_001032221.6(STXBP1):c.903-69_905del
NM_001032221.6(STXBP1):c.904G>T (p.Glu302Ter) rs796053362
NM_001032221.6(STXBP1):c.906_912del (p.Glu302fs) rs1841465369
NM_001032221.6(STXBP1):c.910_917del (p.Thr304fs)
NM_001032221.6(STXBP1):c.912_915del (p.Arg305fs)
NM_001032221.6(STXBP1):c.920_921del (p.Leu307fs) rs2131488963
NM_001032221.6(STXBP1):c.956del (p.Gly319fs) rs1554777919
NM_001032221.6(STXBP1):c.963+1G>T rs1085307465
NM_001032221.6(STXBP1):c.963+2T>C
NM_001032221.6(STXBP1):c.969del (p.Met324fs)
NM_001032221.6(STXBP1):c.971del (p.Met324fs) rs2131497207
NM_001032221.6(STXBP1):c.980dup (p.Ser328fs) rs2131497242
NM_001032221.6(STXBP1):c.981_987delinsTCAGCACC (p.Ser328fs) rs1588332693
NM_001032221.6(STXBP1):c.989dup (p.Met330fs) rs1841564743
NM_003165.6(STXBP1):c.664-1delG rs2131472407

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