ClinVar Miner

List of variants in gene LOC102724058, SCN1A studied for Severe myoclonic epilepsy in infancy

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Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) rs1477444505 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) rs1553540342
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs) rs1696358124
NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter) rs863225032
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter) rs1574168611
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) rs794726733
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro) rs1693190884
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter) rs794726728
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs) rs794726729
NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer) rs794726774
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs) rs1574069132
NM_001165963.4(SCN1A):c.3550+1G>A rs794726836
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) rs1574061044
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter) rs1553532671
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys) rs121918738
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter) rs863225033
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter) rs1057519534
NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr) rs121918800
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg) rs121918746
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg) rs121917911
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) rs869312670
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3705+2T>A rs794726735
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs) rs794726706
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter) rs794726727
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter) rs794726817
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs) rs1574052179
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro) rs777939538
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro) rs121918739
NM_001165963.4(SCN1A):c.3789C>G (p.Phe1263Leu) rs121918752
NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro) rs121918794
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs) rs794726709
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser) rs794726852
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter) rs794726731
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp) rs1692549700
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs) rs863225034
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter) rs794726853
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro) rs121918740
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr) rs1553531134
NM_001165963.4(SCN1A):c.3879+1G>T rs794726700
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.3880-2A>G rs794726816
NM_001165963.4(SCN1A):c.3880-2_3880-1del
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs) rs2105571418
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg) rs146878122
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs) rs1692166604
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro) rs1692164539
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer) rs794726723
NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro) rs121918803
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_001165963.4(SCN1A):c.4002+2543A>G
NM_001165963.4(SCN1A):c.4003-14C>T rs1241008825
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4003-4T>G
NM_001165963.4(SCN1A):c.4003-603T>C
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly) rs1691097432
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val) rs794726789
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro) rs121918776
NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser) rs121917961
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) rs794726779
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn) rs794726707
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys) rs121918760
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu) rs121917986
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly) rs121917987
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter) rs794726745
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) rs794726784
NM_001165963.4(SCN1A):c.4240A>T (p.Asn1414Tyr) rs121917925
NM_001165963.4(SCN1A):c.4244T>G (p.Phe1415Cys)
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) rs794726705
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys) rs121917913
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter) rs863225035
NM_001165963.4(SCN1A):c.4270T>C (p.Ser1424Pro)
NM_001165963.4(SCN1A):c.4277T>G (p.Leu1426Arg) rs121917944
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
NM_001165963.4(SCN1A):c.4284+1G>A rs1553524865
NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg) rs121917908
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter) rs794726699
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr) rs2105486716
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro) rs121917974
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+4A>C rs794726734
NM_001165963.4(SCN1A):c.4338+5G>C rs796053011
NM_001165963.4(SCN1A):c.4338+616G>A rs1366966423
NM_001165963.4(SCN1A):c.4339-21C>G rs1690353601
NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys) rs121918806
NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg) rs121918790
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) rs794726696
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs) rs2105476550
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile) rs121918772
NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys) rs121917962
NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser) rs121917946
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu) rs2105476313
NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp) rs121917924
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val) rs2105476084
NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser) rs121917947
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr) rs2105476040
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) rs1573984110
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.4460A>G (p.Asn1487Ser)
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4477-2A>G rs863225036
NM_001165963.4(SCN1A):c.4477-3T>A rs1690013843
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His) rs1690003122
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) rs1573973548
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp) rs139300715
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) rs794726835
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) rs794726825
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser) rs143088184
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4581+18A>G rs1689981394
NM_001165963.4(SCN1A):c.4581+1G>A rs1689986058
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.4611_4645dup (p.Ile1549delinsThrTer) rs794726757
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter) rs1573963975
NM_001165963.4(SCN1A):c.4708_4709del (p.Thr1570fs)
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs) rs2105448260
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu) rs121918742
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) rs121917919
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly) rs764037830
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs) rs1689680658
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) rs794726800
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.4823del (p.Asp1608fs) rs794726785
NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs) rs794726850
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser) rs2105447216
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln)
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter) rs794726701
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser) rs121918755
NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer)
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly) rs1573953030
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro) rs121917976
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
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>G (p.Thr1658Arg) rs121917922
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser) rs121918797
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys) rs121918765
NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs) rs794726819
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5002C>G (p.Pro1668Ala) rs121917948
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg) rs794726698
NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu)
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs) rs794726758
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His) rs794726740
NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg) rs121918792
NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp) rs121918744
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val) rs794726851
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) rs121918777
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter) rs794726748
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs) rs1689309551
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu) rs794726804
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val) rs794726802
NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val) rs121917977
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn) rs121918816
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr) rs121917949
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg) rs121917949
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg) rs121917926
NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val)
NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg) rs121917978
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) rs1689280236
NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg) rs121917979
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly) rs1689278062
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs) rs1573949198
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu) rs121918798
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs) rs2105430494
NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs) rs794726702
NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg) rs794726703
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly) rs794726722
NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly) rs121918809
NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs)
NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs) rs794726814
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs) rs794726832
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp) rs2105429648
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe) rs1573947939
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) rs121917951
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs) rs794726783
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr) rs121917952
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys) rs121918779
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer) rs1689241423
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) rs121918763
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs) rs794726741
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys) rs121917916
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter) rs794726780
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu) rs121918757
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) rs121918751
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter) rs794726781
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter) rs794726769
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter) rs1553520103
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs) rs1573945872
NM_001165963.4(SCN1A):c.5492T>C (p.Phe1831Ser) rs121918748
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter) rs372098964
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs) rs2105426446
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro) rs1689186812
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs) rs2105425501
NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs)
NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp) rs121918804
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter) rs794726845
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro) rs1689139851
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) rs794726737

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