ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr) rs1553531134
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs) rs2105571418
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
NM_001165963.4(SCN1A):c.4003-4T>G
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile) rs1131691775
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4338+616G>A rs1366966423
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4477-3T>A rs1690013843
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His) rs1690003122
NM_001165963.4(SCN1A):c.4581+18A>G rs1689981394
NM_001165963.4(SCN1A):c.4581+5G>C rs1559114303
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs) rs2105448260
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
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.4852G>A (p.Gly1618Ser) rs2105447216
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)
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.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) rs1689280236
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly) rs1689278062
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs) rs2105430494
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe) rs1573947939
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro) rs1689186812
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro) rs1689139851

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