ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for Early infantile epileptic encephalopathy

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Total variants: 386
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HGVS dbSNP
NM_001165963.1(SCN1A):c.4002+1953_4221del
NM_001165963.1(SCN1A):c.4853-110_4853-108delins129
NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) rs1553540389
NM_001165963.4(SCN1A):c.3104_3110del (p.Gln1035fs) rs1574170908
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.3106_3107del (p.Gln1036fs)
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895
NM_001165963.4(SCN1A):c.3139G>A (p.Glu1047Lys) rs776984527
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) rs985473996
NM_001165963.4(SCN1A):c.3165C>A (p.Asn1055Lys) rs797045939
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) rs746016312
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs)
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054
NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter)
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.4(SCN1A):c.3215A>G (p.Asp1072Gly) rs1553540263
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645
NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs) rs1574169179
NM_001165963.4(SCN1A):c.3284A>G (p.Tyr1095Cys)
NM_001165963.4(SCN1A):c.3305del (p.Tyr1102fs)
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr)
NM_001165963.4(SCN1A):c.3343_3344del (p.Val1115fs) rs1559193050
NM_001165963.4(SCN1A):c.3368A>C (p.Asp1123Ala) rs1559192797
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer) rs1131691693
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445
NM_001165963.4(SCN1A):c.3401G>A (p.Ser1134Asn) rs753444206
NM_001165963.4(SCN1A):c.3430-2A>G
NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) rs1553534296
NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr) rs763254451
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)
NM_001165963.4(SCN1A):c.3501C>T (p.Pro1167=) rs769635347
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3539G>T (p.Cys1180Phe) rs1444741563
NM_001165963.4(SCN1A):c.3579A>C (p.Gln1193His) rs757649321
NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=) rs376901032
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser)
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) rs121918738
NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs) rs1060502182
NM_001165963.4(SCN1A):c.3635_3636delinsA (p.Phe1212fs) rs1574060717
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3644T>A (p.Val1215Asp) rs1559148930
NM_001165963.4(SCN1A):c.3655T>A (p.Trp1219Arg) rs1553532599
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3671T>C (p.Ile1224Thr) rs1553532551
NM_001165963.4(SCN1A):c.3689T>C (p.Leu1230Pro) rs1574060250
NM_001165963.4(SCN1A):c.3705G>C (p.Leu1235=)
NM_001165963.4(SCN1A):c.3706-1G>C
NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser) rs1553531410
NM_001165963.4(SCN1A):c.3712G>C (p.Glu1238Gln) rs750364705
NM_001165963.4(SCN1A):c.3716_3717AT[6] (p.Asp1243fs) rs796053072
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del) rs1574052546
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912
NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr) rs749638533
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter)
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591
NM_001165963.4(SCN1A):c.3783C>G (p.Tyr1261Ter) rs1043031572
NM_001165963.4(SCN1A):c.3785_3797del (p.Ile1262fs) rs1574051665
NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu) rs1559144956
NM_001165963.4(SCN1A):c.3812G>A (p.Trp1271Ter) rs1574051496
NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) rs1060502188
NM_001165963.4(SCN1A):c.3829C>T (p.Gln1277Ter)
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala)
NM_001165963.4(SCN1A):c.3866T>C (p.Phe1289Ser) rs794727224
NM_001165963.4(SCN1A):c.3879+5G>T
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met) rs375896308
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
NM_001165963.4(SCN1A):c.3890T>G (p.Val1297Gly) rs781267314
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3902C>T (p.Ala1301Val) rs1553529579
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val) rs121918801
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801
NM_001165963.4(SCN1A):c.3929G>A (p.Gly1310Glu) rs1574039742
NM_001165963.4(SCN1A):c.3943C>T (p.Leu1315Phe) rs1559140423
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028
NM_001165963.4(SCN1A):c.3955A>G (p.Arg1319Gly) rs1553529492
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) rs1057521746
NM_001165963.4(SCN1A):c.3971dup (p.Arg1325fs) rs1559140306
NM_001165963.4(SCN1A):c.3975A>C (p.Arg1325Ser)
NM_001165963.4(SCN1A):c.3989T>C (p.Phe1330Ser) rs1559140205
NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) rs1553529426
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp) rs794726789
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.4(SCN1A):c.4028del (p.Ala1343fs)
NM_001165963.4(SCN1A):c.4031T>C (p.Ile1344Thr)
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu) rs1574006637
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe)
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4057G>T (p.Val1353Phe) rs121917954
NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) rs1057521537
NM_001165963.4(SCN1A):c.4068A>G (p.Ile1356Met)
NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile)
NM_001165963.4(SCN1A):c.4102T>G (p.Leu1368Val) rs1553525227
NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) rs1553525210
NM_001165963.4(SCN1A):c.4111G>T (p.Gly1371Cys) rs1064795303
NM_001165963.4(SCN1A):c.4128T>G (p.Cys1376Trp)
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val) rs764507532
NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=) rs761168283
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.4(SCN1A):c.4174_4186del (p.Asn1392fs) rs1553525036
NM_001165963.4(SCN1A):c.4177_4180delinsTG (p.His1393fs) rs1574005235
NM_001165963.4(SCN1A):c.4179T>A (p.His1393Gln) rs772400574
NM_001165963.4(SCN1A):c.4181_4182del (p.Thr1394fs)
NM_001165963.4(SCN1A):c.4201G>A (p.Glu1401Lys)
NM_001165963.4(SCN1A):c.4210G>A (p.Glu1404Lys)
NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr) rs1559127505
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser) rs1559127505
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter) rs794727337
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu) rs1553524977
NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer) rs1060502183
NM_001165963.4(SCN1A):c.4238T>A (p.Val1413Glu) rs1559127385
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys) rs121917913
NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val) rs1060502190
NM_001165963.4(SCN1A):c.4267_4268CT[1] (p.Ser1424fs) rs1574004452
NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) rs878854263
NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu)
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val) rs1559122124
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr) rs121917974
NM_001165963.4(SCN1A):c.4325T>C (p.Val1442Ala)
NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter) rs1553523142
NM_001165963.4(SCN1A):c.4339G>C (p.Val1447Leu) rs1559119642
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174
NM_001165963.4(SCN1A):c.4351C>G (p.Pro1451Ala)
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4372del (p.Tyr1458fs)
NM_001165963.4(SCN1A):c.4375A>G (p.Met1459Val) rs1553522451
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.4(SCN1A):c.4408G>C (p.Gly1470Arg)
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)
NM_001165963.4(SCN1A):c.4451A>C (p.Asp1484Ala) rs1553522339
NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp) rs1553522331
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) rs1553522321
NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His) rs1559114837
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His) rs1559114837
NM_001165963.4(SCN1A):c.4531del (p.Ala1510_Met1511insTer)
NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter) rs121918764
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4552A>C (p.Lys1518Gln)
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) rs794726825
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4565del (p.Pro1522fs)
NM_001165963.4(SCN1A):c.4567A>G (p.Ile1523Val) rs1474960995
NM_001165963.4(SCN1A):c.4571del (p.Pro1524fs)
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln) rs1559114408
NM_001165963.4(SCN1A):c.4574G>C (p.Arg1525Pro)
NM_001165963.4(SCN1A):c.4580G>C (p.Gly1527Ala)
NM_001165963.4(SCN1A):c.4581+1G>A
NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly) rs1573964628
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly) rs1573964264
NM_001165963.4(SCN1A):c.4688_4692del (p.Asp1563fs) rs1559110846
NM_001165963.4(SCN1A):c.4697G>A (p.Ser1566Asn) rs200263247
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.4(SCN1A):c.4734G>A (p.Leu1578=) rs758734319
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) rs121917919
NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr) rs1553520982
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700
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.4788C>T (p.Arg1596=) rs762836573
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.4(SCN1A):c.4801A>G (p.Thr1601Ala) rs1573963046
NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter) rs761333438
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.4(SCN1A):c.4900C>G (p.Leu1634Val) rs1211903272
NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=)
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.4916G>C (p.Arg1639Pro) rs796053029
NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met) rs1573952908
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.4955G>A (p.Gly1652Glu) rs1573952568
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg)
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) rs1553520439
NM_001165963.4(SCN1A):c.4969del (p.Arg1657fs)
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4976T>C (p.Leu1659Pro) rs1559105368
NM_001165963.4(SCN1A):c.4978_4979CT[1] (p.Phe1661fs) rs1559105301
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) rs121918765
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp) rs1553520380
NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys)
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) rs121918777
NM_001165963.4(SCN1A):c.5099G>A (p.Gly1700Glu)
NM_001165963.4(SCN1A):c.5104G>A (p.Asp1702Asn) rs748333147
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys)
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu) rs796053033
NM_001165963.4(SCN1A):c.5125A>G (p.Thr1709Ala) rs1573950349
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser)
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser) rs796053098
NM_001165963.4(SCN1A):c.5145C>G (p.Ile1715Met) rs1559104174
NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro) rs1553520320
NM_001165963.4(SCN1A):c.5171C>T (p.Ala1724Val) rs1553520319
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) rs1553520318
NM_001165963.4(SCN1A):c.5176T>G (p.Trp1726Gly)
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro) rs796053100
NM_001165963.4(SCN1A):c.5212_5213del (p.Pro1738fs)
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His)
NM_001165963.4(SCN1A):c.5222G>C (p.Cys1741Ser) rs794726763
NM_001165963.4(SCN1A):c.5225A>C (p.Asp1742Ala) rs121918812
NM_001165963.4(SCN1A):c.5235A>G (p.Lys1745=)
NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr) rs927722314
NM_001165963.4(SCN1A):c.5267G>A (p.Cys1756Tyr) rs1559103294
NM_001165963.4(SCN1A):c.5269G>C (p.Gly1757Arg) rs1553520227
NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=) rs1044871344
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) rs1573948129
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)
NM_001165963.4(SCN1A):c.5306A>C (p.Tyr1769Ser)
NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr) rs121917951
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) rs121917951
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala)
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5359G>C (p.Glu1787Gln)
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.5414T>C (p.Phe1805Ser)
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn) rs747251662
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5495_5496insT (p.Ala1833fs) rs1559101585
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter) rs1064795579
NM_001165963.4(SCN1A):c.5532_5535AAAC[1] (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr)
NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu)
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr) rs796053041
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.4(SCN1A):c.5579A>C (p.Asp1860Ala)
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) rs1553520029
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln) rs148703212
NM_001165963.4(SCN1A):c.5632_5634delinsAAT (p.Glu1878Asn) rs1573944260
NM_001165963.4(SCN1A):c.5634G>A (p.Glu1878=) rs748090629
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001165963.4(SCN1A):c.5639G>C (p.Gly1880Ala) rs201905405
NM_001165963.4(SCN1A):c.5651C>T (p.Ala1884Val) rs1188972480
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg)
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.5697del (p.Lys1900fs)
NM_001165963.4(SCN1A):c.5717T>A (p.Ile1906Asn)
NM_001165963.4(SCN1A):c.5719_5721ACT[2] (p.Thr1909del) rs1553519902
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln) rs373896263
NM_001165963.4(SCN1A):c.5753C>A (p.Ser1918Tyr)
NM_001165963.4(SCN1A):c.5754del (p.Ala1919fs) rs1553519872
NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser) rs121917981
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) rs1553519865
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956
NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln) rs371253263
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446
NM_001165963.4(SCN1A):c.5798G>T (p.Arg1933Leu) rs556893466
NM_001165963.4(SCN1A):c.5804T>C (p.Val1935Ala) rs1559099002
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=) rs754371368
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165
NM_001165963.4(SCN1A):c.5860C>T (p.Leu1954Phe) rs1573941131
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.4(SCN1A):c.5869G>C (p.Glu1957Gln)
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802
NM_001165963.4(SCN1A):c.5932T>A (p.Ser1978Thr) rs1553519733
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr) rs766656231
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629
NM_001165963.4(SCN1A):c.5990A>G (p.His1997Arg) rs1573939967
NM_006920.6(SCN1A):c.3147_3148insA (p.Cys1050fs)
NM_006920.6(SCN1A):c.3249del (p.Lys1083fs)
NM_006920.6(SCN1A):c.3250T>C (p.Tyr1084His)
NM_006920.6(SCN1A):c.3339T>G (p.Phe1113Leu)
NM_006920.6(SCN1A):c.3484dup (p.Glu1162fs)
NM_006920.6(SCN1A):c.3517+2T>C rs1574068971
NM_006920.6(SCN1A):c.3518-3C>T rs1225446966
NM_006920.6(SCN1A):c.3518G>A (p.Gly1173Asp)
NM_006920.6(SCN1A):c.3672+1G>T rs794726744
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.3673-2A>T
NM_006920.6(SCN1A):c.3673-3T>C
NM_006920.6(SCN1A):c.3693del (p.Ile1231fs)
NM_006920.6(SCN1A):c.3794A>T (p.Tyr1265Phe)
NM_006920.6(SCN1A):c.3846+9C>T rs570092799
NM_006920.6(SCN1A):c.3847-1G>T rs1559140855
NM_006920.6(SCN1A):c.3847-2A>G rs794726816
NM_006920.6(SCN1A):c.3847G>T (p.Val1283Phe)
NM_006920.6(SCN1A):c.3893T>A (p.Leu1298His)
NM_006920.6(SCN1A):c.3907_3908TC[2] (p.Leu1304fs)
NM_006920.6(SCN1A):c.3929T>C (p.Leu1310Pro)
NM_006920.6(SCN1A):c.3969+2T>C rs1559140110
NM_006920.6(SCN1A):c.3969+8A>G rs762574934
NM_006920.6(SCN1A):c.3970-11_4003del rs1559128532
NM_006920.6(SCN1A):c.3980_3982dup (p.Ala1328_Leu1329insAsp)
NM_006920.6(SCN1A):c.4007T>C (p.Ile1336Thr)
NM_006920.6(SCN1A):c.4015G>A (p.Val1339Met)
NM_006920.6(SCN1A):c.4198G>A (p.Val1400Met)
NM_006920.6(SCN1A):c.4211T>C (p.Phe1404Ser)
NM_006920.6(SCN1A):c.4251+1G>T rs1553524865
NM_006920.6(SCN1A):c.4262A>T (p.Lys1421Ile)
NM_006920.6(SCN1A):c.4283A>G (p.Tyr1428Cys)
NM_006920.6(SCN1A):c.4306-1G>A rs1553522517
NM_006920.6(SCN1A):c.4306G>T (p.Val1436Leu)
NM_006920.6(SCN1A):c.4319C>G (p.Pro1440Arg)
NM_006920.6(SCN1A):c.4325A>G (p.Tyr1442Cys)
NM_006920.6(SCN1A):c.4376G>C (p.Gly1459Ala)
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys) rs1573984110
NM_006920.6(SCN1A):c.4411dup (p.Ile1471fs) rs1573984004
NM_006920.6(SCN1A):c.4444-1C>T rs1553521567
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4444-3T>C
NM_006920.6(SCN1A):c.4444-6C>G rs1470740998
NM_006920.6(SCN1A):c.4457del (p.Asp1486fs)
NM_006920.6(SCN1A):c.4477C>A (p.Gln1493Lys)
NM_006920.6(SCN1A):c.4530_4548+39del rs1559114202
NM_006920.6(SCN1A):c.4548+2del
NM_006920.6(SCN1A):c.4548+5G>C rs1559114303
NM_006920.6(SCN1A):c.4549-3C>G rs747649993
NM_006920.6(SCN1A):c.4565T>A (p.Met1522Lys)
NM_006920.6(SCN1A):c.4623T>A (p.Cys1541Ter)
NM_006920.6(SCN1A):c.4629C>A (p.Asn1543Lys)
NM_006920.6(SCN1A):c.4660C>T (p.Gln1554Ter)
NM_006920.6(SCN1A):c.4819+1G>T rs1573962555
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.4931_4932del (p.Gly1644fs)
NM_006920.6(SCN1A):c.4940C>A (p.Thr1647Lys)
NM_006920.6(SCN1A):c.4973C>T (p.Ala1658Val)
NM_006920.6(SCN1A):c.5013C>A (p.Phe1671Leu)
NM_006920.6(SCN1A):c.5041T>A (p.Phe1681Ile)
NM_006920.6(SCN1A):c.5059G>A (p.Glu1687Lys)
NM_006920.6(SCN1A):c.5075del (p.Asp1692fs)
NM_006920.6(SCN1A):c.5078T>C (p.Met1693Thr)
NM_006920.6(SCN1A):c.5124A>C (p.Gln1708His)
NM_006920.6(SCN1A):c.5146G>T (p.Asp1716Tyr)
NM_006920.6(SCN1A):c.5149G>A (p.Gly1717Arg)
NM_006920.6(SCN1A):c.5183C>G (p.Pro1728Arg)
NM_006920.6(SCN1A):c.5210C>G (p.Pro1737Arg)
NM_006920.6(SCN1A):c.5279T>G (p.Ile1760Ser)
NM_006920.6(SCN1A):c.5316G>A (p.Ala1772=)
NM_006920.6(SCN1A):c.5320A>T (p.Ile1774Phe)
NM_006920.6(SCN1A):c.5359G>A (p.Glu1787Lys)
NM_006920.6(SCN1A):c.5363C>G (p.Pro1788Arg)
NM_006920.6(SCN1A):c.5366del (p.Leu1789fs) rs1573946994
NM_006920.6(SCN1A):c.5393del (p.Tyr1798fs)
NM_006920.6(SCN1A):c.5410T>C (p.Phe1804Leu)
NM_006920.6(SCN1A):c.5411T>C (p.Phe1804Ser)
NM_006920.6(SCN1A):c.5455_5456del (p.Gln1819fs)
NM_006920.6(SCN1A):c.5585A>G (p.Lys1862Arg)
NM_006920.6(SCN1A):c.5668G>A (p.Val1890Ile)
NM_006920.6(SCN1A):c.5723C>G (p.Ala1908Gly)
NM_006920.6(SCN1A):c.5756T>C (p.Leu1919Pro)

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