ClinVar Miner

List of variants in gene STX1B reported as uncertain significance for genetic generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_052874.5(STX1B):c.128T>C (p.Ile43Thr) rs750185897 0.00006
NM_052874.5(STX1B):c.32C>T (p.Ala11Val) rs368619665 0.00006
NM_052874.5(STX1B):c.805A>C (p.Ile269Leu) rs530737248 0.00006
NM_052874.5(STX1B):c.463A>G (p.Thr155Ala) rs1327694789 0.00003
NM_052874.5(STX1B):c.67G>A (p.Val23Met) rs769729036 0.00003
NM_052874.5(STX1B):c.121G>A (p.Gly41Ser) rs1428045237 0.00002
NM_052874.5(STX1B):c.691C>T (p.Arg231Cys) rs760876430 0.00002
NM_052874.5(STX1B):c.787-3C>A rs374256908 0.00002
NM_052874.5(STX1B):c.140C>T (p.Ser47Leu) rs200979563 0.00001
NM_052874.5(STX1B):c.187G>T (p.Ala63Ser) rs778453959 0.00001
NM_052874.5(STX1B):c.251C>T (p.Thr84Met) rs778653532 0.00001
NM_052874.5(STX1B):c.253G>T (p.Ala85Ser) rs1412773144 0.00001
NM_052874.5(STX1B):c.26G>A (p.Arg9Gln) rs774963206 0.00001
NM_052874.5(STX1B):c.463+3G>T rs994660213 0.00001
NM_052874.5(STX1B):c.463+4C>A rs367710164 0.00001
NM_052874.5(STX1B):c.538-8C>T rs781582150 0.00001
NM_052874.5(STX1B):c.560C>T (p.Thr187Met) rs753358277 0.00001
NM_052874.5(STX1B):c.637G>A (p.Asp213Asn) rs769892442 0.00001
NM_052874.5(STX1B):c.734G>A (p.Arg245Gln) rs1246807785 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NM_052874.5(STX1B):c.848G>T (p.Gly283Val) rs773649592 0.00001
NC_000016.9:g.(?_31003278)_(31004694_?)del
NM_052874.5(STX1B):c.*4C>A rs749087140
NM_052874.5(STX1B):c.*9C>G rs78690970
NM_052874.5(STX1B):c.-15_-4dup
NM_052874.5(STX1B):c.103C>A (p.Gln35Lys) rs2056629841
NM_052874.5(STX1B):c.106-20T>G
NM_052874.5(STX1B):c.106-6C>T
NM_052874.5(STX1B):c.11G>A (p.Arg4Gln)
NM_052874.5(STX1B):c.127A>T (p.Ile43Phe)
NM_052874.5(STX1B):c.142G>C (p.Glu48Gln)
NM_052874.5(STX1B):c.151G>A (p.Glu51Lys)
NM_052874.5(STX1B):c.161A>G (p.Lys54Arg)
NM_052874.5(STX1B):c.163A>C (p.Lys55Gln) rs1463703956
NM_052874.5(STX1B):c.16C>G (p.Gln6Glu) rs2056675258
NM_052874.5(STX1B):c.175G>A (p.Ala59Thr) rs202077851
NM_052874.5(STX1B):c.175G>T (p.Ala59Ser)
NM_052874.5(STX1B):c.178A>G (p.Ile60Val) rs2056625948
NM_052874.5(STX1B):c.184G>T (p.Ala62Ser)
NM_052874.5(STX1B):c.19G>A (p.Glu7Lys)
NM_052874.5(STX1B):c.1A>G (p.Met1Val) rs1596723978
NM_052874.5(STX1B):c.1A>T (p.Met1Leu) rs1596723978
NM_052874.5(STX1B):c.201T>G (p.Asp67Glu)
NM_052874.5(STX1B):c.205+5G>A rs2056625628
NM_052874.5(STX1B):c.205+6T>C rs542437163
NM_052874.5(STX1B):c.212A>C (p.Lys71Thr)
NM_052874.5(STX1B):c.215A>G (p.Gln72Arg) rs748657799
NM_052874.5(STX1B):c.262G>T (p.Val88Phe) rs995045434
NM_052874.5(STX1B):c.265C>T (p.Arg89Trp) rs2143677205
NM_052874.5(STX1B):c.268T>G (p.Ser90Ala) rs2056624297
NM_052874.5(STX1B):c.280+3G>A rs2056624198
NM_052874.5(STX1B):c.280G>A (p.Ala94Thr) rs2056624213
NM_052874.5(STX1B):c.280G>C (p.Ala94Pro) rs2056624213
NM_052874.5(STX1B):c.281C>T (p.Ala94Val)
NM_052874.5(STX1B):c.293G>C (p.Ser98Thr)
NM_052874.5(STX1B):c.296T>C (p.Ile99Thr)
NM_052874.5(STX1B):c.30+3G>C
NM_052874.5(STX1B):c.311G>A (p.Gly104Glu) rs2056602250
NM_052874.5(STX1B):c.313C>G (p.Leu105Val)
NM_052874.5(STX1B):c.314T>C (p.Leu105Pro)
NM_052874.5(STX1B):c.319C>T (p.Arg107Cys) rs2143670951
NM_052874.5(STX1B):c.320G>A (p.Arg107His) rs3186882
NM_052874.5(STX1B):c.325T>C (p.Ser109Pro)
NM_052874.5(STX1B):c.329C>T (p.Ala110Val)
NM_052874.5(STX1B):c.355-3T>C rs2143669499
NM_052874.5(STX1B):c.35A>G (p.Lys12Arg) rs2056630459
NM_052874.5(STX1B):c.391A>G (p.Thr131Ala) rs2143669401
NM_052874.5(STX1B):c.403G>A (p.Ala135Thr) rs2056596800
NM_052874.5(STX1B):c.407C>G (p.Thr136Ser) rs2143669353
NM_052874.5(STX1B):c.428G>A (p.Arg143His) rs780166656
NM_052874.5(STX1B):c.446A>G (p.Gln149Arg)
NM_052874.5(STX1B):c.448C>T (p.Arg150Trp)
NM_052874.5(STX1B):c.463+5G>C rs1596716834
NM_052874.5(STX1B):c.479C>T (p.Thr160Ile)
NM_052874.5(STX1B):c.482A>G (p.Asn161Ser)
NM_052874.5(STX1B):c.491T>C (p.Leu164Pro)
NM_052874.5(STX1B):c.4A>G (p.Lys2Glu)
NM_052874.5(STX1B):c.503T>C (p.Leu168Pro) rs1555494226
NM_052874.5(STX1B):c.510C>G (p.Ser170Arg)
NM_052874.5(STX1B):c.533A>G (p.Asp178Gly) rs1596716568
NM_052874.5(STX1B):c.537+15G>A
NM_052874.5(STX1B):c.537+3G>C
NM_052874.5(STX1B):c.538-7_538-6insG
NM_052874.5(STX1B):c.540C>G (p.Ile180Met)
NM_052874.5(STX1B):c.542A>G (p.Lys181Arg) rs2143662002
NM_052874.5(STX1B):c.548A>T (p.Asp183Val) rs2056574366
NM_052874.5(STX1B):c.572T>C (p.Leu191Pro) rs2056574153
NM_052874.5(STX1B):c.587C>T (p.Thr196Met) rs2056574109
NM_052874.5(STX1B):c.595A>G (p.Asn199Asp) rs1596714723
NM_052874.5(STX1B):c.602TCA[1] (p.Ile202del) rs2143661890
NM_052874.5(STX1B):c.619A>G (p.Ser207Gly)
NM_052874.5(STX1B):c.622A>G (p.Ile208Val)
NM_052874.5(STX1B):c.626G>A (p.Arg209His)
NM_052874.5(STX1B):c.628G>A (p.Glu210Lys) rs2056573886
NM_052874.5(STX1B):c.62T>C (p.Val21Ala) rs1397633628
NM_052874.5(STX1B):c.631C>G (p.Leu211Val) rs2143661836
NM_052874.5(STX1B):c.632T>C (p.Leu211Pro)
NM_052874.5(STX1B):c.652A>C (p.Met218Leu)
NM_052874.5(STX1B):c.692G>A (p.Arg231His) rs1183707872
NM_052874.5(STX1B):c.696C>G (p.Ile232Met)
NM_052874.5(STX1B):c.6G>C (p.Lys2Asn)
NM_052874.5(STX1B):c.73C>G (p.Arg25Gly) rs548580499
NM_052874.5(STX1B):c.74G>A (p.Arg25Gln)
NM_052874.5(STX1B):c.755A>T (p.Lys252Ile) rs1057524236
NM_052874.5(STX1B):c.773G>A (p.Ser258Asn) rs2056572447
NM_052874.5(STX1B):c.774C>T (p.Ser258=) rs2056572426
NM_052874.5(STX1B):c.781C>T (p.Arg261Trp)
NM_052874.5(STX1B):c.785G>A (p.Arg262Lys) rs2056572301
NM_052874.5(STX1B):c.786+5G>A rs2056572281
NM_052874.5(STX1B):c.798G>C (p.Met266Ile)
NM_052874.5(STX1B):c.802A>G (p.Ile268Val)
NM_052874.5(STX1B):c.833T>C (p.Leu278Ser) rs2056569948
NM_052874.5(STX1B):c.836C>T (p.Ala279Val)
NM_052874.5(STX1B):c.841T>C (p.Ser281Pro) rs1596714288
NM_052874.5(STX1B):c.845T>A (p.Ile282Asn) rs763428520
NM_052874.5(STX1B):c.847G>C (p.Gly283Arg) rs2143660672
NM_052874.5(STX1B):c.850G>A (p.Gly284Arg) rs2143660649
NM_052874.5(STX1B):c.852del (p.Thr285fs) rs762705451
NM_052874.5(STX1B):c.854C>T (p.Thr285Met)
NM_052874.5(STX1B):c.96C>A (p.Phe32Leu) rs758734411

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