ClinVar Miner

List of variants reported as likely pathogenic for Infantile epilepsy syndrome

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Total variants: 14
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HGVS dbSNP
NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr)
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)
NM_001032221.6(STXBP1):c.1473_1475del (p.Glu491del)
NM_001032221.6(STXBP1):c.37+3A>C
NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)
NM_003165.4(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_003165.4(STXBP1):c.1642A>G (p.Asn548Asp) rs1057523381
NM_003165.4(STXBP1):c.1702+1G>A rs796053377
NM_003165.4(STXBP1):c.224A>G (p.Tyr75Cys) rs796053352
NM_003165.4(STXBP1):c.37+3A>T rs796053379
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_003165.4(STXBP1):c.902+4A>G rs1554777733

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