ClinVar Miner

List of variants in gene STXBP1 reported as likely pathogenic for epilepsy

Included ClinVar conditions (438):
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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NC_000009.12:g.(?_127672031)_(127676773_?)del
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.1030-2A>G
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp) rs1841611651
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro) rs2131501072
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly) rs886041337
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr) rs796053365
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)
NM_001032221.6(STXBP1):c.1110+1G>A
NM_001032221.6(STXBP1):c.1110+2T>G
NM_001032221.6(STXBP1):c.1110+3A>C rs2131501481
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.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.1250-2A>G
NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr) rs1840655911
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.1277T>G (p.Leu426Arg) rs886039435
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter) rs2131513223
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
NM_001032221.6(STXBP1):c.1359+5G>C
NM_001032221.6(STXBP1):c.1360-2A>C rs1057522982
NM_001032221.6(STXBP1):c.1360-2A>T rs1057522982
NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)
NM_001032221.6(STXBP1):c.1428dup (p.Arg477fs)
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser) rs1841869298
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg) rs2131522449
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1473_1475del (p.Glu491del) rs1841944944
NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs) rs2131528405
NM_001032221.6(STXBP1):c.1533_1543del (p.Thr512fs)
NM_001032221.6(STXBP1):c.1547+2T>G
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg) rs1842044505
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp) rs1057523381
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr) rs2131536069
NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg) rs1554776228
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.218_246+22del rs2132460935
NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys) rs796053352
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.246+1G>C rs1840868164
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del) rs1588306876
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro) rs1588306948
NM_001032221.6(STXBP1):c.325+2T>A rs1840976417
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032221.6(STXBP1):c.326-1G>C
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg) rs2131454649
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro) rs1060501724
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.429+2T>G
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
NM_001032221.6(STXBP1):c.550_552del (p.Lys184del)
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)
NM_001032221.6(STXBP1):c.624del (p.Lys208fs) rs1841237663
NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup) rs1841284648
NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)
NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr) rs1841290957
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val) rs2131473052
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro) rs2131481623
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001032221.6(STXBP1):c.863_865delinsTGG (p.Trp288_Ile289delinsLeuVal) rs2131481685
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met) rs1840653229
NM_001032221.6(STXBP1):c.902+4A>G rs1554777733
NM_001032221.6(STXBP1):c.92T>C (p.Leu31Pro)
NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu) rs1840653547
NM_001032221.6(STXBP1):c.993del (p.Lys332fs) rs2131497300
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp) rs2131543392

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