ClinVar Miner

List of variants in gene STX1B reported as likely benign for hereditary generalized epilepsy

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_052874.5(STX1B):c.609G>A (p.Lys203=) rs61733980 0.00173
NM_052874.5(STX1B):c.780C>G (p.Ala260=) rs138274964 0.00019
NM_052874.5(STX1B):c.105+10C>T rs370337339 0.00016
NM_052874.5(STX1B):c.786+6C>T rs750134526 0.00011
NM_052874.5(STX1B):c.355-17C>A rs373766713 0.00006
NM_052874.5(STX1B):c.463+13C>T rs112285959 0.00006
NM_052874.5(STX1B):c.108G>A (p.Val36=) rs758008534 0.00005
NM_052874.5(STX1B):c.171T>C (p.His57=) rs200260175 0.00004
NM_052874.5(STX1B):c.198A>C (p.Pro66=) rs965073699 0.00004
NM_052874.5(STX1B):c.205+15C>T rs377715474 0.00004
NM_052874.5(STX1B):c.206-13G>A rs771018075 0.00004
NM_052874.5(STX1B):c.274T>C (p.Leu92=) rs139004170 0.00004
NM_052874.5(STX1B):c.282G>A (p.Ala94=) rs200196812 0.00004
NM_052874.5(STX1B):c.354+19T>C rs772881088 0.00004
NM_052874.5(STX1B):c.588G>A (p.Thr196=) rs759427955 0.00004
NM_052874.5(STX1B):c.852G>A (p.Gly284=) rs199880822 0.00004
NM_052874.5(STX1B):c.206-10C>T rs773651424 0.00003
NM_052874.5(STX1B):c.174C>T (p.Ser58=) rs370766953 0.00002
NM_052874.5(STX1B):c.280+17C>T rs1328341442 0.00002
NM_052874.5(STX1B):c.354+15C>T rs770406468 0.00002
NM_052874.5(STX1B):c.663C>T (p.Leu221=) rs776867689 0.00002
NM_052874.5(STX1B):c.726C>T (p.Tyr242=) rs747664620 0.00002
NM_052874.5(STX1B):c.75G>A (p.Arg25=) rs747223515 0.00002
NM_052874.5(STX1B):c.862T>C (p.Leu288=) rs771453922 0.00002
NM_052874.5(STX1B):c.186C>T (p.Ala62=) rs749799050 0.00001
NM_052874.5(STX1B):c.206-14C>T rs774600832 0.00001
NM_052874.5(STX1B):c.252G>A (p.Thr84=) rs536678216 0.00001
NM_052874.5(STX1B):c.280+10A>G rs777541708 0.00001
NM_052874.5(STX1B):c.281-7C>T rs986079804 0.00001
NM_052874.5(STX1B):c.30+10G>C rs373070887 0.00001
NM_052874.5(STX1B):c.33G>A (p.Ala11=) rs774354732 0.00001
NM_052874.5(STX1B):c.355-15C>G rs201313891 0.00001
NM_052874.5(STX1B):c.355-5C>T rs1410123185 0.00001
NM_052874.5(STX1B):c.408C>G (p.Thr136=) rs889628309 0.00001
NM_052874.5(STX1B):c.448C>A (p.Arg150=) rs372213532 0.00001
NM_052874.5(STX1B):c.463+10C>T rs757611453 0.00001
NM_052874.5(STX1B):c.464-5C>T rs2056594467 0.00001
NM_052874.5(STX1B):c.48T>C (p.Asp16=) rs373759425 0.00001
NM_052874.5(STX1B):c.538-10G>A rs903403032 0.00001
NM_052874.5(STX1B):c.627C>T (p.Arg209=) rs762943452 0.00001
NM_052874.5(STX1B):c.636C>T (p.His212=) rs773222268 0.00001
NM_052874.5(STX1B):c.696C>T (p.Ile232=) rs775771121 0.00001
NM_052874.5(STX1B):c.741G>C (p.Val247=) rs1385008089 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NM_052874.5(STX1B):c.855G>A (p.Thr285=) rs762220243 0.00001
NM_052874.5(STX1B):c.106-16C>G
NM_052874.5(STX1B):c.114G>A (p.Glu38=)
NM_052874.5(STX1B):c.120G>C (p.Arg40=)
NM_052874.5(STX1B):c.136C>T (p.Leu46=) rs2056626405
NM_052874.5(STX1B):c.141G>A (p.Ser47=)
NM_052874.5(STX1B):c.144G>A (p.Glu48=)
NM_052874.5(STX1B):c.206-5C>G rs1370221416
NM_052874.5(STX1B):c.206-6C>T rs2056624871
NM_052874.5(STX1B):c.206-7C>T
NM_052874.5(STX1B):c.237A>G (p.Ala79=) rs894670114
NM_052874.5(STX1B):c.280+18T>G
NM_052874.5(STX1B):c.281-11C>T
NM_052874.5(STX1B):c.281-13C>T
NM_052874.5(STX1B):c.30+14T>G
NM_052874.5(STX1B):c.30+15G>C rs1249408809
NM_052874.5(STX1B):c.30+19A>T
NM_052874.5(STX1B):c.30+8T>G
NM_052874.5(STX1B):c.31-15C>T
NM_052874.5(STX1B):c.31-19C>T
NM_052874.5(STX1B):c.31-20T>C
NM_052874.5(STX1B):c.312G>T (p.Gly104=) rs766362162
NM_052874.5(STX1B):c.327C>G (p.Ser109=)
NM_052874.5(STX1B):c.355-19C>A
NM_052874.5(STX1B):c.372G>C (p.Arg124=)
NM_052874.5(STX1B):c.378C>T (p.Phe126=) rs2143669433
NM_052874.5(STX1B):c.417G>A (p.Lys139=) rs1174496810
NM_052874.5(STX1B):c.426C>T (p.Asp142=) rs1234767441
NM_052874.5(STX1B):c.432C>T (p.Cys144=)
NM_052874.5(STX1B):c.438C>T (p.Asp146=)
NM_052874.5(STX1B):c.463+15C>A
NM_052874.5(STX1B):c.463+17C>T rs753056163
NM_052874.5(STX1B):c.463+6T>A rs1567378057
NM_052874.5(STX1B):c.464-19G>T rs777879527
NM_052874.5(STX1B):c.464-20G>C
NM_052874.5(STX1B):c.464-4G>A
NM_052874.5(STX1B):c.464-7C>T rs753006506
NM_052874.5(STX1B):c.474C>A (p.Thr158=)
NM_052874.5(STX1B):c.504G>A (p.Leu168=)
NM_052874.5(STX1B):c.537+10G>A rs753334289
NM_052874.5(STX1B):c.537+10G>C
NM_052874.5(STX1B):c.537+13T>G
NM_052874.5(STX1B):c.537+14G>A rs2143668484
NM_052874.5(STX1B):c.537+16G>C
NM_052874.5(STX1B):c.537+8G>C rs964395687
NM_052874.5(STX1B):c.538-11C>T
NM_052874.5(STX1B):c.538-18T>C
NM_052874.5(STX1B):c.538-19C>T
NM_052874.5(STX1B):c.538-8_538-7inv
NM_052874.5(STX1B):c.555G>A (p.Gln185=)
NM_052874.5(STX1B):c.561G>A (p.Thr187=)
NM_052874.5(STX1B):c.570G>A (p.Ala190=)
NM_052874.5(STX1B):c.60G>T (p.Val20=) rs772989451
NM_052874.5(STX1B):c.612G>A (p.Leu204=)
NM_052874.5(STX1B):c.627C>G (p.Arg209=) rs762943452
NM_052874.5(STX1B):c.675+11T>C
NM_052874.5(STX1B):c.675+17C>T
NM_052874.5(STX1B):c.676-17G>A
NM_052874.5(STX1B):c.676-6C>T
NM_052874.5(STX1B):c.676-7_676-4del
NM_052874.5(STX1B):c.676-8G>A
NM_052874.5(STX1B):c.687T>C (p.Ile229=)
NM_052874.5(STX1B):c.69G>A (p.Val23=)
NM_052874.5(STX1B):c.782G>A (p.Arg261Gln) rs779750229
NM_052874.5(STX1B):c.783G>A (p.Arg261=) rs1054267632
NM_052874.5(STX1B):c.786+15C>G rs371578393
NM_052874.5(STX1B):c.786+15C>T rs371578393
NM_052874.5(STX1B):c.786+16G>A rs764141145
NM_052874.5(STX1B):c.786+9G>C rs2143661269
NM_052874.5(STX1B):c.787-13_787-12del
NM_052874.5(STX1B):c.787-15C>T
NM_052874.5(STX1B):c.787-15_787-13del rs1311240614
NM_052874.5(STX1B):c.78C>T (p.Asp26=) rs2143678765
NM_052874.5(STX1B):c.828G>T (p.Val276=) rs202028644
NM_052874.5(STX1B):c.849G>C (p.Gly283=) rs369401261
NM_052874.5(STX1B):c.861C>A (p.Gly287=) rs775117894
NM_052874.5(STX1B):c.864G>A (p.Leu288=) rs2143660577

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