ClinVar Miner

List of variants in gene STXBP1 reported as likely benign for not specified

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Total variants: 63
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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.38-3T>C rs138763389 0.01315
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_001032221.6(STXBP1):c.903-4C>G rs369625158 0.00016
NM_001032221.6(STXBP1):c.1250-20C>T rs368217811 0.00012
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=) rs972703931 0.00011
NM_001032221.6(STXBP1):c.1257G>A (p.Thr419=) rs377751165 0.00007
NM_001032221.6(STXBP1):c.1359+16A>C rs778666479 0.00004
NM_001032221.6(STXBP1):c.902+18C>G rs374633678 0.00004
NM_001032221.6(STXBP1):c.1539C>T (p.Thr513=) rs751251068 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.660G>A (p.Gly220=) rs536049754 0.00003
NM_001032221.6(STXBP1):c.255C>T (p.His85=) rs768884290 0.00002
NM_001032221.6(STXBP1):c.1107G>A (p.Glu369=) rs376244106 0.00001
NM_001032221.6(STXBP1):c.1461+12G>A rs369896782 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+14C>T rs755773785 0.00001
NM_001032221.6(STXBP1):c.1702+9C>T rs1026137028 0.00001
NM_001032221.6(STXBP1):c.237A>T (p.Pro79=) rs758203394 0.00001
NM_001032221.6(STXBP1):c.246+12A>G rs770867031 0.00001
NM_001032221.6(STXBP1):c.249C>T (p.Ser83=) rs756273104 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.547C>T (p.Leu183=) rs753725349 0.00001
NM_001032221.6(STXBP1):c.578+11G>T rs201797980 0.00001
NM_001032221.6(STXBP1):c.675G>A (p.Lys225=) rs1554777466 0.00001
NM_001032221.6(STXBP1):c.795-14C>T rs754375406 0.00001
NM_001032221.6(STXBP1):c.855C>T (p.Asp285=) rs143755818 0.00001
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=) rs377721017 0.00001
NM_001032221.6(STXBP1):c.1017A>G (p.Lys339=) rs1554778140
NM_001032221.6(STXBP1):c.1077A>G (p.Gln359=) rs1554778217
NM_001032221.6(STXBP1):c.1249+9G>C rs372869649
NM_001032221.6(STXBP1):c.1250-19G>C rs370856785
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=) rs1462537561
NM_001032221.6(STXBP1):c.1504A>G (p.Ile502Val) rs1554778812
NM_001032221.6(STXBP1):c.1548-18TC[3] rs148316151
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr) rs1057518123
NM_001032221.6(STXBP1):c.169+18A>C rs377086674
NM_001032221.6(STXBP1):c.247-13C>G rs763971558
NM_001032221.6(STXBP1):c.247-16dup rs746722135
NM_001032221.6(STXBP1):c.247-9del rs776049050
NM_001032221.6(STXBP1):c.247-9dup rs776049050
NM_001032221.6(STXBP1):c.267T>C (p.Ser89=) rs1554776832
NM_001032221.6(STXBP1):c.326-4G>A rs1057522113
NM_001032221.6(STXBP1):c.417G>A (p.Pro139=) rs931563377
NM_001032221.6(STXBP1):c.664-13T>C rs1554777463
NM_001032221.6(STXBP1):c.768G>T (p.Leu256=) rs1057524216
NM_001032221.6(STXBP1):c.798T>C (p.Tyr266=) rs751170778
NM_001032221.6(STXBP1):c.88-17G>A rs1057522112
NM_001032221.6(STXBP1):c.902+11C>G rs940389412
NM_001032221.6(STXBP1):c.902+19C>A rs767072467
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.974G>A (p.Arg325Gln) rs1174793467

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