ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by LifeCell International Pvt. Ltd

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Total variants: 18
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072
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.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu)
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr)
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser)
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) rs1477444505
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.264+4_264+7del rs1574370981

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