ClinVar Miner

List of variants reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_167055131)_(167168316_?)dup
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.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
NM_001165963.4(SCN1A):c.4581+18A>G
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile) rs1057519533
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
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.3396+1G>T rs1574166948
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.384-12A>C rs1574291210
NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile) rs1131691775
NM_006920.6(SCN1A):c.4113del (p.Asp1372fs) rs1574005699
NM_006920.6(SCN1A):c.4294G>A (p.Asp1432Asn) rs1573991676
NM_006920.6(SCN1A):c.4305+616G>A rs1366966423
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu) rs796053036
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.