ClinVar Miner

List of variants reported as likely pathogenic for Dravet syndrome by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_167055131)_(167168316_?)dup
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
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.4319C>T (p.Pro1440Leu) rs121917945
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.664C>T (p.Arg222Ter) rs121918624

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