ClinVar Miner

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

Included ClinVar conditions (8):
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)
NM_006920.6(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_006920.6(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_006920.6(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_006920.6(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.6(SCN1A):c.265-2143G>A rs1574312497
NM_006920.6(SCN1A):c.384-12A>C rs1574291210
NM_006920.6(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_006920.6(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_006920.6(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_006920.6(SCN1A):c.965-1G>A rs794726824

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