ClinVar Miner

List of variants in gene STXBP1 reported as benign for Early infantile epileptic encephalopathy with suppression bursts

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Total variants: 49
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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.663+17C>T rs140247913 0.01395
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.902+15C>T rs199534789 0.00109
NM_001032221.6(STXBP1):c.1359+15C>T rs374034782 0.00106
NM_001032221.6(STXBP1):c.1702+11G>A rs201977618 0.00092
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00059
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001032221.6(STXBP1):c.902+9C>A rs200737004 0.00016
NM_001032221.6(STXBP1):c.1250-20C>T rs368217811 0.00012
NM_001032221.6(STXBP1):c.247-10C>G rs376599576 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001032221.6(STXBP1):c.246+15A>G rs369881520 0.00005
NM_001032221.6(STXBP1):c.579G>A (p.Gly193=) rs771910659 0.00005
NM_001032221.6(STXBP1):c.1587C>T (p.Gly529=) rs573931063 0.00003
NM_001032221.6(STXBP1):c.1341C>T (p.Gly447=) rs367980635 0.00002
NM_001032221.6(STXBP1):c.1543G>A (p.Val515Ile) rs781079163 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.1585G>A (p.Gly529Ser) rs763711145 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001032221.6(STXBP1):c.824G>A (p.Arg275Gln) rs747288455 0.00001
NM_001032221.6(STXBP1):c.964-3C>T rs1841563646 0.00001
NM_003165.6(STXBP1):c.1765G>A (p.Glu589Lys) rs144054444 0.00001
NM_003165.6(STXBP1):c.1772C>G (p.Ser591Cys) rs1842136149 0.00001
NM_001032221.6(STXBP1):c.1029+7C>T rs2131497503
NM_001032221.6(STXBP1):c.1111-20A>G
NM_001032221.6(STXBP1):c.1202C>T (p.Thr401Ile) rs756159322
NM_001032221.6(STXBP1):c.1461+4A>G
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.243G>A (p.Glu81=)
NM_001032221.6(STXBP1):c.247-9del rs776049050
NM_001032221.6(STXBP1):c.247-9dup rs776049050
NM_001032221.6(STXBP1):c.302C>T (p.Ala101Val) rs776064372
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.464G>A (p.Ser155Asn) rs1841134073
NM_001032221.6(STXBP1):c.478C>A (p.His160Asn) rs1841134699
NM_001032221.6(STXBP1):c.502A>G (p.Ile168Val)
NM_001032221.6(STXBP1):c.681C>G (p.Arg227=) rs553892771
NM_001032221.6(STXBP1):c.794+23del rs112440418
NM_001032221.6(STXBP1):c.902+19C>A rs767072467
NM_001032221.6(STXBP1):c.942G>T (p.Lys314Asn)

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