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: 24
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HGVS dbSNP
NM_006920.6(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_006920.6(SCN1A):c.1077T>A (p.Asn359Lys)
NM_006920.6(SCN1A):c.1204T>A (p.Phe402Ile)
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.6(SCN1A):c.1810dup (p.Arg604fs)
NM_006920.6(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.6(SCN1A):c.2317_2318del (p.Phe773fs) rs1553543215
NM_006920.6(SCN1A):c.2382+2T>C
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.265-2143G>A
NM_006920.6(SCN1A):c.2695C>T (p.Gln899Ter) rs794726721
NM_006920.6(SCN1A):c.2923_2924CT[1] (p.Phe976fs) rs794729207
NM_006920.6(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_006920.6(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_006920.6(SCN1A):c.384-12A>C
NM_006920.6(SCN1A):c.404T>C (p.Met135Thr)
NM_006920.6(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_006920.6(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_006920.6(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_006920.6(SCN1A):c.683C>T (p.Ser228Leu)
NM_006920.6(SCN1A):c.830G>A (p.Cys277Tyr)
NM_006920.6(SCN1A):c.942G>T (p.Trp314Cys)

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