ClinVar Miner

List of variants reported as likely pathogenic for Severe myoclonic epilepsy in infancy by Lifecell International Pvt. Ltd

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) rs1553545740
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766

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