ClinVar Miner

List of variants in gene STXBP1 reported as likely pathogenic by Invitae

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.(?_127672031)_(127676773_?)del
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp) rs1841611651
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly) rs886041337
NM_001032221.6(STXBP1):c.1110+1G>A
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.1250-2A>G
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
NM_001032221.6(STXBP1):c.1360-2A>C rs1057522982
NM_001032221.6(STXBP1):c.1360-2A>T rs1057522982
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser) rs1841869298
NM_001032221.6(STXBP1):c.1461+1G>A
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg) rs2131535795
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg) rs1842044505
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu) rs796053374
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg) rs1554776228
NM_001032221.6(STXBP1):c.218_246+22del rs2132460935
NM_001032221.6(STXBP1):c.325+2T>A rs1840976417
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.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
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.98T>A (p.Val33Glu) rs1840653547
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp) rs2131543392

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