ClinVar Miner

List of variants in gene SCN1A reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001165963.1(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.1(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_001165963.1(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.2(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.2(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001202435.2(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_006920.4(SCN1A):c.1766A>T (p.Asp589Val) rs398123584
NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.5(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.5(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817

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