ClinVar Miner

List of variants reported as likely pathogenic for Early infantile epileptic encephalopathy 4

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Total variants: 6
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HGVS dbSNP
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003165.4(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003165.4(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443

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