ClinVar Miner

List of variants reported as likely pathogenic for Severe myoclonic epilepsy in infancy

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Total variants: 18
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HGVS dbSNP
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_167055131)_(167168316_?)dup
NM_006920.6(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.6(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.6(SCN1A):c.2695C>T (p.Gln899Ter) rs794726721
NM_006920.6(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_006920.6(SCN1A):c.4007T>A (p.Ile1336Asn) rs1553525325
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4781A>T (p.Asn1594Ile) rs1057519533
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4964C>T (p.Ser1655Phe) rs794726760
NM_006920.6(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_006920.6(SCN1A):c.5318T>C (p.Val1773Ala) rs1057518671
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530

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