ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic for Severe myoclonic epilepsy in infancy

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Total variants: 65
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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.4787G>A (p.Arg1596His) rs575368466 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
GRCh38/hg38 2q24.3(chr2:165991235-166002763)x1
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs) rs2468549024
NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys) rs2468531169
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg) rs121918746
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) rs2468493548
NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro) rs2468493029
NM_001165963.4(SCN1A):c.4003-2A>G
NM_001165963.4(SCN1A):c.4003-4T>G rs2468438327
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.4072T>C (p.Trp1358Arg) rs2468437301
NM_001165963.4(SCN1A):c.4117T>A (p.Phe1373Ile)
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro) rs2468436385
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4279C>A (p.Gln1427Lys)
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.4412C>G (p.Ser1471Cys) rs794726809
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.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) rs1553521087
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.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.4852_4852+14del
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro) rs121917995
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter) rs2468339798
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu) rs1689339718
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr) rs1559104676
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5080T>C (p.Tyr1694His)
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) rs1689280236
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter) rs2105431458
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly) rs1689278062
NM_001165963.4(SCN1A):c.5243del (p.Pro1748fs)
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.5511del (p.Pro1838fs) rs2468330581
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro) rs1689186812
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro) rs1689139851

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