ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance for Early infantile epileptic encephalopathy with suppression bursts

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ClinVar version:
Total variants: 466
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00006
NM_001165963.4(SCN1A):c.3386C>T (p.Thr1129Met) rs779989776 0.00003
NM_001165963.4(SCN1A):c.4697G>A (p.Ser1566Asn) rs200263247 0.00003
NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro) rs566595038 0.00003
NM_001165963.4(SCN1A):c.5822C>T (p.Thr1941Met) rs756845310 0.00003
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) rs985473996 0.00002
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645 0.00002
NM_001165963.4(SCN1A):c.5651C>T (p.Ala1884Val) rs1188972480 0.00002
NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile) rs1205848223 0.00002
NM_001165963.4(SCN1A):c.5834A>G (p.Asn1945Ser) rs767935681 0.00002
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165 0.00002
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr) rs766656231 0.00002
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992 0.00001
NM_001165963.4(SCN1A):c.3121A>G (p.Lys1041Glu) rs376649518 0.00001
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro) rs776055539 0.00001
NM_001165963.4(SCN1A):c.3175G>T (p.Asp1059Tyr) rs1426284889 0.00001
NM_001165963.4(SCN1A):c.3283T>C (p.Tyr1095His) rs1388336286 0.00001
NM_001165963.4(SCN1A):c.3325C>A (p.Pro1109Thr) rs753452775 0.00001
NM_001165963.4(SCN1A):c.3355G>A (p.Val1119Ile) rs774410570 0.00001
NM_001165963.4(SCN1A):c.3391G>A (p.Asp1131Asn) rs372555722 0.00001
NM_001165963.4(SCN1A):c.3392A>G (p.Asp1131Gly) rs1252603738 0.00001
NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu) rs746718015 0.00001
NM_001165963.4(SCN1A):c.3443G>A (p.Ser1148Asn) rs1213569051 0.00001
NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr) rs763254451 0.00001
NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr) rs776629634 0.00001
NM_001165963.4(SCN1A):c.3760T>C (p.Tyr1254His) rs1475198821 0.00001
NM_001165963.4(SCN1A):c.3890T>G (p.Val1297Gly) rs781267314 0.00001
NM_001165963.4(SCN1A):c.3955A>G (p.Arg1319Gly) rs1553529492 0.00001
NM_001165963.4(SCN1A):c.4179T>A (p.His1393Gln) rs772400574 0.00001
NM_001165963.4(SCN1A):c.4210G>A (p.Glu1404Lys) rs200406481 0.00001
NM_001165963.4(SCN1A):c.4231G>A (p.Val1411Met) rs1691042935 0.00001
NM_001165963.4(SCN1A):c.4342G>C (p.Glu1448Gln) rs1193847815 0.00001
NM_001165963.4(SCN1A):c.4567A>G (p.Ile1523Val) rs1474960995 0.00001
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln) rs1559114408 0.00001
NM_001165963.4(SCN1A):c.4580G>C (p.Gly1527Ala) rs751929295 0.00001
NM_001165963.4(SCN1A):c.4588T>C (p.Phe1530Leu) rs1689724218 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.4690G>A (p.Asp1564Asn) rs766227610 0.00001
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221 0.00001
NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys) rs548487014 0.00001
NM_001165963.4(SCN1A):c.5236G>C (p.Val1746Leu) rs777579756 0.00001
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn) rs747251662 0.00001
NM_001165963.4(SCN1A):c.5539C>G (p.Leu1847Val) rs1689187575 0.00001
NM_001165963.4(SCN1A):c.5618A>G (p.Lys1873Arg) rs1689172357 0.00001
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln) rs373896263 0.00001
NM_001165963.4(SCN1A):c.5771G>A (p.Arg1924His) rs3749029 0.00001
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) rs1477444505 0.00001
NM_001165963.4(SCN1A):c.5812G>A (p.Ala1938Thr) rs536616689 0.00001
NM_001165963.4(SCN1A):c.5831A>T (p.Lys1944Ile) rs753059561 0.00001
NM_001165963.4(SCN1A):c.5832A>T (p.Lys1944Asn) rs1255900122 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln) rs769477807 0.00001
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112 0.00001
NM_001165963.4(SCN1A):c.3077T>G (p.Val1026Gly) rs1696379248
NM_001165963.4(SCN1A):c.3090A>G (p.Ile1030Met)
NM_001165963.4(SCN1A):c.3110C>A (p.Ser1037Tyr)
NM_001165963.4(SCN1A):c.3110C>G (p.Ser1037Cys) rs1265022938
NM_001165963.4(SCN1A):c.3126A>C (p.Gln1042His)
NM_001165963.4(SCN1A):c.3136G>T (p.Asp1046Tyr) rs1696366603
NM_001165963.4(SCN1A):c.3139G>A (p.Glu1047Lys) rs776984527
NM_001165963.4(SCN1A):c.3149C>T (p.Pro1050Leu)
NM_001165963.4(SCN1A):c.3154G>T (p.Asp1052Tyr) rs1696363649
NM_001165963.4(SCN1A):c.3158A>T (p.Asp1053Val) rs772577387
NM_001165963.4(SCN1A):c.3167A>G (p.Asn1056Ser)
NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe)
NM_001165963.4(SCN1A):c.3185T>A (p.Met1062Lys) rs2105795236
NM_001165963.4(SCN1A):c.3185T>G (p.Met1062Arg)
NM_001165963.4(SCN1A):c.3186G>A (p.Met1062Ile)
NM_001165963.4(SCN1A):c.3191A>G (p.Asn1064Ser)
NM_001165963.4(SCN1A):c.3197C>A (p.Thr1066Lys)
NM_001165963.4(SCN1A):c.3200C>A (p.Ala1067Glu)
NM_001165963.4(SCN1A):c.3232G>C (p.Asp1078His)
NM_001165963.4(SCN1A):c.3233A>G (p.Asp1078Gly)
NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)
NM_001165963.4(SCN1A):c.3245C>A (p.Thr1082Asn)
NM_001165963.4(SCN1A):c.3253G>A (p.Gly1085Ser)
NM_001165963.4(SCN1A):c.3260G>A (p.Gly1087Glu)
NM_001165963.4(SCN1A):c.3280A>G (p.Lys1094Glu)
NM_001165963.4(SCN1A):c.3284A>G (p.Tyr1095Cys) rs1188507636
NM_001165963.4(SCN1A):c.3301G>C (p.Asp1101His)
NM_001165963.4(SCN1A):c.3308T>C (p.Met1103Thr) rs1559193311
NM_001165963.4(SCN1A):c.3309G>A (p.Met1103Ile) rs2105794207
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr) rs528170959
NM_001165963.4(SCN1A):c.3332T>C (p.Leu1111Pro)
NM_001165963.4(SCN1A):c.3337G>A (p.Val1113Met)
NM_001165963.4(SCN1A):c.3341C>T (p.Thr1114Ile)
NM_001165963.4(SCN1A):c.3342T>A (p.Thr1114=) rs904226939
NM_001165963.4(SCN1A):c.3343G>C (p.Val1115Leu)
NM_001165963.4(SCN1A):c.3356T>C (p.Val1119Ala) rs2105793697
NM_001165963.4(SCN1A):c.3362A>T (p.Glu1121Val)
NM_001165963.4(SCN1A):c.3365C>G (p.Ser1122Cys) rs2105793589
NM_001165963.4(SCN1A):c.3368A>C (p.Asp1123Ala) rs1559192797
NM_001165963.4(SCN1A):c.3376A>G (p.Asn1126Asp)
NM_001165963.4(SCN1A):c.3385A>T (p.Thr1129Ser) rs2105793364
NM_001165963.4(SCN1A):c.3391G>C (p.Asp1131His)
NM_001165963.4(SCN1A):c.3395T>C (p.Phe1132Ser)
NM_001165963.4(SCN1A):c.3401G>A (p.Ser1134Asn) rs753444206
NM_001165963.4(SCN1A):c.3424A>G (p.Lys1142Glu) rs1553540101
NM_001165963.4(SCN1A):c.3429+5G>T
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.3430-3C>G rs1693199299
NM_001165963.4(SCN1A):c.3445_3450del (p.Ser1151_Ser1152del) rs1314539929
NM_001165963.4(SCN1A):c.3455C>T (p.Ser1152Leu)
NM_001165963.4(SCN1A):c.3506T>A (p.Val1169Glu) rs1380673643
NM_001165963.4(SCN1A):c.3514G>A (p.Glu1172Lys) rs1553534085
NM_001165963.4(SCN1A):c.3525_3526insTCTTCAGGTTCT (p.Leu1175_Glu1176insSerSerGlySer)
NM_001165963.4(SCN1A):c.3529_3531del (p.Pro1177del)
NM_001165963.4(SCN1A):c.3539G>T (p.Cys1180Phe) rs1444741563
NM_001165963.4(SCN1A):c.3550+6G>T
NM_001165963.4(SCN1A):c.3551-3C>A
NM_001165963.4(SCN1A):c.3551G>A (p.Gly1184Asp) rs746541835
NM_001165963.4(SCN1A):c.3554G>A (p.Cys1185Tyr)
NM_001165963.4(SCN1A):c.3565T>C (p.Phe1189Leu) rs1692897012
NM_001165963.4(SCN1A):c.3568A>C (p.Lys1190Gln) rs1553532748
NM_001165963.4(SCN1A):c.3572G>A (p.Cys1191Tyr)
NM_001165963.4(SCN1A):c.3574T>G (p.Cys1192Gly)
NM_001165963.4(SCN1A):c.3579A>C (p.Gln1193His) rs757649321
NM_001165963.4(SCN1A):c.3596G>A (p.Gly1199Asp)
NM_001165963.4(SCN1A):c.3618C>A (p.Asn1206Lys) rs762734890
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys) rs1559149025
NM_001165963.4(SCN1A):c.3623G>C (p.Arg1208Thr)
NM_001165963.4(SCN1A):c.3631T>C (p.Cys1211Arg) rs1692876877
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
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.3665C>T (p.Thr1222Ile)
NM_001165963.4(SCN1A):c.3667T>G (p.Phe1223Val)
NM_001165963.4(SCN1A):c.3670A>G (p.Ile1224Val) rs1210683098
NM_001165963.4(SCN1A):c.3671T>C (p.Ile1224Thr) rs1553532551
NM_001165963.4(SCN1A):c.3672T>G (p.Ile1224Met)
NM_001165963.4(SCN1A):c.3677T>G (p.Phe1226Cys) rs1692863303
NM_001165963.4(SCN1A):c.3680T>C (p.Met1227Thr)
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser) rs796052997
NM_001165963.4(SCN1A):c.3685C>T (p.Leu1229Phe)
NM_001165963.4(SCN1A):c.3695G>A (p.Ser1232Asn)
NM_001165963.4(SCN1A):c.3705+3G>T rs2105609368
NM_001165963.4(SCN1A):c.3705+6T>C rs1692854443
NM_001165963.4(SCN1A):c.3705G>A (p.Leu1235=) rs1251252995
NM_001165963.4(SCN1A):c.3705G>C (p.Leu1235=) rs1251252995
NM_001165963.4(SCN1A):c.3706-12T>G rs2105594508
NM_001165963.4(SCN1A):c.3706-20_3706-19insCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT
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.3740C>T (p.Thr1247Met)
NM_001165963.4(SCN1A):c.3763G>A (p.Ala1255Thr)
NM_001165963.4(SCN1A):c.3767A>C (p.Asp1256Ala)
NM_001165963.4(SCN1A):c.3767A>G (p.Asp1256Gly) rs2105593110
NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu) rs1559144956
NM_001165963.4(SCN1A):c.3791T>C (p.Ile1264Thr)
NM_001165963.4(SCN1A):c.3827A>T (p.Tyr1276Phe) rs1692552933
NM_001165963.4(SCN1A):c.3836A>G (p.Tyr1279Cys)
NM_001165963.4(SCN1A):c.3845A>G (p.Asn1282Ser) rs1692549264
NM_001165963.4(SCN1A):c.3848C>G (p.Ala1283Gly)
NM_001165963.4(SCN1A):c.3854G>A (p.Cys1285Tyr) rs1692546613
NM_001165963.4(SCN1A):c.3866T>C (p.Phe1289Ser) rs794727224
NM_001165963.4(SCN1A):c.3879+4G>T rs763755211
NM_001165963.4(SCN1A):c.3880G>T (p.Val1294Phe) rs1692186944
NM_001165963.4(SCN1A):c.3883T>C (p.Ser1295Pro)
NM_001165963.4(SCN1A):c.3883T>G (p.Ser1295Ala)
NM_001165963.4(SCN1A):c.3893G>C (p.Ser1298Thr) rs2105571316
NM_001165963.4(SCN1A):c.3896T>C (p.Leu1299Ser)
NM_001165963.4(SCN1A):c.3902C>T (p.Ala1301Val) rs1553529579
NM_001165963.4(SCN1A):c.3914G>T (p.Gly1305Val) rs2105570936
NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val) rs2105570494
NM_001165963.4(SCN1A):c.3937A>C (p.Lys1313Gln) rs150017890
NM_001165963.4(SCN1A):c.3943C>T (p.Leu1315Phe) rs1559140423
NM_001165963.4(SCN1A):c.3952C>G (p.Leu1318Val) rs1692165143
NM_001165963.4(SCN1A):c.3962T>C (p.Leu1321Pro) rs1692162066
NM_001165963.4(SCN1A):c.3975A>C (p.Arg1325Ser) rs1692159292
NM_001165963.4(SCN1A):c.3979T>G (p.Leu1327Val)
NM_001165963.4(SCN1A):c.3989T>C (p.Phe1330Ser) rs1559140205
NM_001165963.4(SCN1A):c.4001G>A (p.Arg1334Lys)
NM_001165963.4(SCN1A):c.4002+1999_4002+2014del
NM_001165963.4(SCN1A):c.4002+2356del
NM_001165963.4(SCN1A):c.4002+2451G>A
NM_001165963.4(SCN1A):c.4002+2452G>A
NM_001165963.4(SCN1A):c.4002+2455G>A
NM_001165963.4(SCN1A):c.4002+2471C>G
NM_001165963.4(SCN1A):c.4002+2493C>A
NM_001165963.4(SCN1A):c.4002+2494T>G rs1057202299
NM_001165963.4(SCN1A):c.4010T>C (p.Val1337Ala) rs794727338
NM_001165963.4(SCN1A):c.4031T>C (p.Ile1344Thr) rs1691087838
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4037C>T (p.Ser1346Phe)
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln) rs794726821
NM_001165963.4(SCN1A):c.4068A>G (p.Ile1356Met) rs1691078631
NM_001165963.4(SCN1A):c.4070T>A (p.Phe1357Tyr)
NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile) rs1691077298
NM_001165963.4(SCN1A):c.4075C>G (p.Leu1359Val) rs1691077298
NM_001165963.4(SCN1A):c.4076T>C (p.Leu1359Pro)
NM_001165963.4(SCN1A):c.4088T>C (p.Ile1363Thr)
NM_001165963.4(SCN1A):c.4091T>C (p.Met1364Thr) rs1691074591
NM_001165963.4(SCN1A):c.4102T>G (p.Leu1368Val) rs1553525227
NM_001165963.4(SCN1A):c.4111G>T (p.Gly1371Cys) rs1064795303
NM_001165963.4(SCN1A):c.4117T>G (p.Phe1373Val) rs2105509471
NM_001165963.4(SCN1A):c.4118T>C (p.Phe1373Ser) rs2105509458
NM_001165963.4(SCN1A):c.4120T>C (p.Tyr1374His) rs750007609
NM_001165963.4(SCN1A):c.4128T>G (p.Cys1376Trp) rs1485075354
NM_001165963.4(SCN1A):c.4144G>A (p.Gly1382Ser) rs2105509153
NM_001165963.4(SCN1A):c.4147G>A (p.Asp1383Asn) rs2105509090
NM_001165963.4(SCN1A):c.4156G>A (p.Asp1386Asn)
NM_001165963.4(SCN1A):c.4161C>G (p.Ile1387Met)
NM_001165963.4(SCN1A):c.4177C>T (p.His1393Tyr)
NM_001165963.4(SCN1A):c.4201G>A (p.Glu1401Lys) rs1691049407
NM_001165963.4(SCN1A):c.4214C>T (p.Thr1405Ile) rs2105508351
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) rs1691045272
NM_001165963.4(SCN1A):c.4232T>C (p.Val1411Ala)
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu) rs1553524977
NM_001165963.4(SCN1A):c.4238T>A (p.Val1413Glu) rs1559127385
NM_001165963.4(SCN1A):c.4262G>T (p.Gly1421Val) rs1064795756
NM_001165963.4(SCN1A):c.4282G>C (p.Val1428Leu) rs878854263
NM_001165963.4(SCN1A):c.4285-4A>G rs796053007
NM_001165963.4(SCN1A):c.4285G>T (p.Ala1429Ser) rs796053008
NM_001165963.4(SCN1A):c.4288A>T (p.Thr1430Ser)
NM_001165963.4(SCN1A):c.4293C>A (p.Phe1431Leu)
NM_001165963.4(SCN1A):c.4306G>A (p.Asp1436Asn)
NM_001165963.4(SCN1A):c.4316A>G (p.Tyr1439Cys) rs1690577824
NM_001165963.4(SCN1A):c.4325T>C (p.Val1442Ala) rs1690573756
NM_001165963.4(SCN1A):c.4328A>G (p.Asp1443Gly)
NM_001165963.4(SCN1A):c.4334G>A (p.Arg1445Lys)
NM_001165963.4(SCN1A):c.4339-12C>A rs776548109
NM_001165963.4(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.4(SCN1A):c.4339G>C (p.Val1447Leu) rs1559119642
NM_001165963.4(SCN1A):c.4339G>T (p.Val1447Leu) rs1559119642
NM_001165963.4(SCN1A):c.4342G>A (p.Glu1448Lys)
NM_001165963.4(SCN1A):c.4343A>T (p.Glu1448Val)
NM_001165963.4(SCN1A):c.4362A>T (p.Glu1454Asp)
NM_001165963.4(SCN1A):c.4363G>C (p.Glu1455Gln) rs1131691600
NM_001165963.4(SCN1A):c.4365A>C (p.Glu1455Asp)
NM_001165963.4(SCN1A):c.4375A>G (p.Met1459Val) rs1553522451
NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp) rs1573984593
NM_001165963.4(SCN1A):c.4382T>C (p.Leu1461Pro)
NM_001165963.4(SCN1A):c.4390G>T (p.Val1464Phe) rs1690336662
NM_001165963.4(SCN1A):c.4391T>C (p.Val1464Ala)
NM_001165963.4(SCN1A):c.4408G>C (p.Gly1470Arg) rs121917924
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4409G>C (p.Gly1470Ala) rs1573984236
NM_001165963.4(SCN1A):c.4424T>G (p.Leu1475Trp) rs121917947
NM_001165963.4(SCN1A):c.4437T>G (p.Ile1479Met)
NM_001165963.4(SCN1A):c.4446C>G (p.Ile1482Met) rs398123596
NM_001165963.4(SCN1A):c.4449A>G (p.Ile1483Met)
NM_001165963.4(SCN1A):c.4451A>C (p.Asp1484Ala) rs1553522339
NM_001165963.4(SCN1A):c.4468A>G (p.Lys1490Glu) rs1553522306
NM_001165963.4(SCN1A):c.4474A>G (p.Lys1492Glu) rs1553522287
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro) rs2105462677
NM_001165963.4(SCN1A):c.4499T>C (p.Met1500Thr) rs745687892
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His) rs1559114837
NM_001165963.4(SCN1A):c.4513A>C (p.Lys1505Gln)
NM_001165963.4(SCN1A):c.4514A>T (p.Lys1505Met)
NM_001165963.4(SCN1A):c.4523A>G (p.Tyr1508Cys) rs2105462218
NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg) rs2105461833
NM_001165963.4(SCN1A):c.4552A>C (p.Lys1518Gln) rs1689995442
NM_001165963.4(SCN1A):c.4555C>G (p.Pro1519Ala) rs796053021
NM_001165963.4(SCN1A):c.4574G>C (p.Arg1525Pro) rs1559114408
NM_001165963.4(SCN1A):c.4580G>A (p.Gly1527Glu) rs751929295
NM_001165963.4(SCN1A):c.4582-3C>G rs747649993
NM_001165963.4(SCN1A):c.4582A>G (p.Asn1528Asp) rs794727398
NM_001165963.4(SCN1A):c.4590T>G (p.Phe1530Leu)
NM_001165963.4(SCN1A):c.4594G>A (p.Gly1532Arg) rs1553521078
NM_001165963.4(SCN1A):c.4598T>A (p.Met1533Lys) rs1689722313
NM_001165963.4(SCN1A):c.4620A>T (p.Arg1540Ser)
NM_001165963.4(SCN1A):c.4622A>G (p.Gln1541Arg)
NM_001165963.4(SCN1A):c.4624G>A (p.Val1542Ile)
NM_001165963.4(SCN1A):c.4637G>A (p.Ser1546Asn)
NM_001165963.4(SCN1A):c.4651A>C (p.Ile1551Leu) rs1553521053
NM_001165963.4(SCN1A):c.4651A>T (p.Ile1551Phe) rs1553521053
NM_001165963.4(SCN1A):c.4653C>G (p.Ile1551Met) rs2105449247
NM_001165963.4(SCN1A):c.4654T>C (p.Cys1552Arg)
NM_001165963.4(SCN1A):c.4662C>A (p.Asn1554Lys) rs1689710741
NM_001165963.4(SCN1A):c.4663A>G (p.Met1555Val) rs2105449182
NM_001165963.4(SCN1A):c.4673T>A (p.Met1558Lys)
NM_001165963.4(SCN1A):c.4674G>T (p.Met1558Ile) rs796053023
NM_001165963.4(SCN1A):c.4699G>A (p.Glu1567Lys) rs1037225738
NM_001165963.4(SCN1A):c.4712C>A (p.Thr1571Asn) rs112547129
NM_001165963.4(SCN1A):c.4724G>C (p.Arg1575Pro) rs368834365
NM_001165963.4(SCN1A):c.4726A>G (p.Ile1576Val) rs1689696329
NM_001165963.4(SCN1A):c.4727T>A (p.Ile1576Asn) rs2105448524
NM_001165963.4(SCN1A):c.4734G>A (p.Leu1578=) rs758734319
NM_001165963.4(SCN1A):c.4736T>C (p.Val1579Ala)
NM_001165963.4(SCN1A):c.4736T>G (p.Val1579Gly)
NM_001165963.4(SCN1A):c.4739T>G (p.Phe1580Cys) rs1689693509
NM_001165963.4(SCN1A):c.4748T>A (p.Leu1583Gln)
NM_001165963.4(SCN1A):c.4750T>C (p.Phe1584Leu)
NM_001165963.4(SCN1A):c.4758A>T (p.Gly1586=)
NM_001165963.4(SCN1A):c.4765G>T (p.Val1589Leu) rs796053027
NM_001165963.4(SCN1A):c.4793A>G (p.Tyr1598Cys) rs377325221
NM_001165963.4(SCN1A):c.4799T>A (p.Phe1600Tyr)
NM_001165963.4(SCN1A):c.4801A>G (p.Thr1601Ala) rs1573963046
NM_001165963.4(SCN1A):c.4805T>C (p.Ile1602Thr)
NM_001165963.4(SCN1A):c.4834G>T (p.Val1612Phe)
NM_001165963.4(SCN1A):c.4843T>A (p.Ser1615Thr) rs2105447300
NM_001165963.4(SCN1A):c.4843T>C (p.Ser1615Pro) rs2105447300
NM_001165963.4(SCN1A):c.4844C>T (p.Ser1615Phe) rs2105447276
NM_001165963.4(SCN1A):c.4852G>C (p.Gly1618Arg)
NM_001165963.4(SCN1A):c.4867G>A (p.Glu1623Lys)
NM_001165963.4(SCN1A):c.4897A>C (p.Thr1633Pro)
NM_001165963.4(SCN1A):c.4900C>G (p.Leu1634Val) rs1211903272
NM_001165963.4(SCN1A):c.4901T>G (p.Leu1634Arg)
NM_001165963.4(SCN1A):c.4910T>C (p.Val1637Ala) rs121918810
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro) rs796053029
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe) rs1553520463
NM_001165963.4(SCN1A):c.4919T>A (p.Leu1640His) rs2105434860
NM_001165963.4(SCN1A):c.4930G>A (p.Gly1644Ser)
NM_001165963.4(SCN1A):c.4940T>C (p.Leu1647Pro)
NM_001165963.4(SCN1A):c.4955G>A (p.Gly1652Glu) rs1573952568
NM_001165963.4(SCN1A):c.4958C>A (p.Ala1653Glu) rs2105434461
NM_001165963.4(SCN1A):c.4984_4986del (p.Ala1662del)
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser) rs1553520425
NM_001165963.4(SCN1A):c.4994T>C (p.Met1665Thr) rs2105433922
NM_001165963.4(SCN1A):c.5006C>T (p.Ala1669Val) rs397514458
NM_001165963.4(SCN1A):c.5012T>C (p.Phe1671Ser)
NM_001165963.4(SCN1A):c.5027T>C (p.Leu1676Pro)
NM_001165963.4(SCN1A):c.5032T>C (p.Phe1678Leu)
NM_001165963.4(SCN1A):c.5046C>A (p.Phe1682Leu) rs1201126725
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser) rs760249153
NM_001165963.4(SCN1A):c.5053_5054delinsTT (p.Ala1685Phe) rs2105433023
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5068T>C (p.Ser1690Pro)
NM_001165963.4(SCN1A):c.5071A>G (p.Asn1691Asp)
NM_001165963.4(SCN1A):c.5072A>G (p.Asn1691Ser)
NM_001165963.4(SCN1A):c.5074T>A (p.Phe1692Ile) rs1689313945
NM_001165963.4(SCN1A):c.5074T>G (p.Phe1692Val) rs1689313945
NM_001165963.4(SCN1A):c.5096T>C (p.Val1699Ala)
NM_001165963.4(SCN1A):c.5099G>A (p.Gly1700Glu) rs1689305230
NM_001165963.4(SCN1A):c.5104G>C (p.Asp1702His)
NM_001165963.4(SCN1A):c.5108A>G (p.Asp1703Gly)
NM_001165963.4(SCN1A):c.5112G>A (p.Met1704Ile) rs2105432342
NM_001165963.4(SCN1A):c.5117A>C (p.Asn1706Thr) rs1553520340
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu) rs796053033
NM_001165963.4(SCN1A):c.5123A>T (p.Glu1708Val) rs2105432174
NM_001165963.4(SCN1A):c.5125A>G (p.Thr1709Ala) rs1573950349
NM_001165963.4(SCN1A):c.5126C>A (p.Thr1709Asn) rs121918629
NM_001165963.4(SCN1A):c.5128T>G (p.Phe1710Val)
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser) rs796053098
NM_001165963.4(SCN1A):c.5143A>T (p.Ile1715Phe)
NM_001165963.4(SCN1A):c.5144T>C (p.Ile1715Thr)
NM_001165963.4(SCN1A):c.5145C>G (p.Ile1715Met) rs1559104174
NM_001165963.4(SCN1A):c.5152T>C (p.Phe1718Leu)
NM_001165963.4(SCN1A):c.5155C>G (p.Gln1719Glu)
NM_001165963.4(SCN1A):c.5162C>T (p.Thr1721Ile)
NM_001165963.4(SCN1A):c.5176T>G (p.Trp1726Gly) rs121917979
NM_001165963.4(SCN1A):c.5183G>C (p.Gly1728Ala)
NM_001165963.4(SCN1A):c.5187G>T (p.Leu1729Phe) rs747155595
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro) rs796053100
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu) rs1553520293
NM_001165963.4(SCN1A):c.5215C>G (p.Pro1739Ala)
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) rs1689271992
NM_001165963.4(SCN1A):c.5216C>G (p.Pro1739Arg) rs1689271621
NM_001165963.4(SCN1A):c.5225A>C (p.Asp1742Ala) rs121918812
NM_001165963.4(SCN1A):c.5227C>T (p.Pro1743Ser)
NM_001165963.4(SCN1A):c.5235A>G (p.Lys1745=) rs1689266758
NM_001165963.4(SCN1A):c.5241C>A (p.Asn1747Lys) rs2105430589
NM_001165963.4(SCN1A):c.5243C>G (p.Pro1748Arg) rs1689265965
NM_001165963.4(SCN1A):c.5249G>A (p.Ser1750Asn)
NM_001165963.4(SCN1A):c.5255T>G (p.Val1752Gly)
NM_001165963.4(SCN1A):c.5276C>T (p.Pro1759Leu)
NM_001165963.4(SCN1A):c.5278T>C (p.Ser1760Pro)
NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala) rs1057518252
NM_001165963.4(SCN1A):c.5305T>C (p.Tyr1769His)
NM_001165963.4(SCN1A):c.5306A>C (p.Tyr1769Ser) rs886039460
NM_001165963.4(SCN1A):c.5316A>G (p.Ile1772Met)
NM_001165963.4(SCN1A):c.5329G>A (p.Val1777Met)
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala) rs1689245014
NM_001165963.4(SCN1A):c.5335A>G (p.Asn1779Asp) rs794727416
NM_001165963.4(SCN1A):c.5344A>C (p.Ile1782Leu) rs1689240616
NM_001165963.4(SCN1A):c.5350G>C (p.Val1784Leu)
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.5353A>T (p.Ile1785Phe) rs1689237157
NM_001165963.4(SCN1A):c.5359G>C (p.Glu1787Gln) rs121917916
NM_001165963.4(SCN1A):c.5371G>T (p.Val1791Phe) rs2105428742
NM_001165963.4(SCN1A):c.5378C>T (p.Thr1793Ile)
NM_001165963.4(SCN1A):c.5392G>A (p.Glu1798Lys) rs1689226880
NM_001165963.4(SCN1A):c.5395C>T (p.Pro1799Ser)
NM_001165963.4(SCN1A):c.5396C>A (p.Pro1799His) rs1689226274
NM_001165963.4(SCN1A):c.5396C>G (p.Pro1799Arg) rs1689226274
NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys) rs794726780
NM_001165963.4(SCN1A):c.5410G>A (p.Asp1804Asn) rs2105428229
NM_001165963.4(SCN1A):c.5412C>A (p.Asp1804Glu)
NM_001165963.4(SCN1A):c.5414T>C (p.Phe1805Ser) rs1689222238
NM_001165963.4(SCN1A):c.5428G>A (p.Glu1810Lys) rs1218205706
NM_001165963.4(SCN1A):c.5430G>T (p.Glu1810Asp)
NM_001165963.4(SCN1A):c.5435G>C (p.Trp1812Ser) rs796053040
NM_001165963.4(SCN1A):c.5440_5442del (p.Lys1814del) rs2105427845
NM_001165963.4(SCN1A):c.5448T>A (p.Asp1816Glu)
NM_001165963.4(SCN1A):c.5450C>A (p.Pro1817His)
NM_001165963.4(SCN1A):c.5455G>A (p.Ala1819Thr)
NM_001165963.4(SCN1A):c.5456C>G (p.Ala1819Gly)
NM_001165963.4(SCN1A):c.5459C>T (p.Thr1820Ile)
NM_001165963.4(SCN1A):c.5461C>A (p.Gln1821Lys)
NM_001165963.4(SCN1A):c.5474T>G (p.Phe1825Cys) rs749198402
NM_001165963.4(SCN1A):c.5486C>G (p.Ser1829Cys) rs2105427253
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr) rs121918748
NM_001165963.4(SCN1A):c.5494G>T (p.Ala1832Ser) rs2105427084
NM_001165963.4(SCN1A):c.5522T>C (p.Leu1841Pro) rs2105426709
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr) rs1689190343
NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu) rs372098964
NM_001165963.4(SCN1A):c.5551G>T (p.Ala1851Ser) rs1689185359
NM_001165963.4(SCN1A):c.5561T>C (p.Leu1854Ser) rs2105426177
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.5576G>C (p.Gly1859Ala) rs2105425879
NM_001165963.4(SCN1A):c.5579A>C (p.Asp1860Ala) rs1689179203
NM_001165963.4(SCN1A):c.5591G>C (p.Cys1864Ser)
NM_001165963.4(SCN1A):c.5599A>G (p.Ile1867Val)
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>C (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.5636G>A (p.Ser1879Asn)
NM_001165963.4(SCN1A):c.5639G>C (p.Gly1880Ala) rs201905405
NM_001165963.4(SCN1A):c.5645T>C (p.Met1882Thr)
NM_001165963.4(SCN1A):c.5666T>C (p.Met1889Thr) rs1197551054
NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg) rs1197551054
NM_001165963.4(SCN1A):c.5675G>A (p.Arg1892Gln) rs2105424575
NM_001165963.4(SCN1A):c.5675G>T (p.Arg1892Leu) rs2105424575
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5684C>A (p.Ala1895Asp) rs1039777371
NM_001165963.4(SCN1A):c.5699A>G (p.Lys1900Arg)
NM_001165963.4(SCN1A):c.5704T>C (p.Ser1902Pro)
NM_001165963.4(SCN1A):c.5716A>G (p.Ile1906Val) rs1689151041
NM_001165963.4(SCN1A):c.5717T>A (p.Ile1906Asn) rs1689150507
NM_001165963.4(SCN1A):c.5731A>G (p.Lys1911Glu) rs1553519896
NM_001165963.4(SCN1A):c.5753C>A (p.Ser1918Tyr) rs796053048
NM_001165963.4(SCN1A):c.5761A>T (p.Ile1921Phe)
NM_001165963.4(SCN1A):c.5770C>T (p.Arg1924Cys)
NM_001165963.4(SCN1A):c.5773G>A (p.Ala1925Thr)
NM_001165963.4(SCN1A):c.5782C>A (p.Arg1928Ser) rs121917956
NM_001165963.4(SCN1A):c.5782C>T (p.Arg1928Cys) rs121917956
NM_001165963.4(SCN1A):c.5786A>G (p.His1929Arg)
NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln) rs371253263
NM_001165963.4(SCN1A):c.5789T>C (p.Leu1930Pro) rs1689133956
NM_001165963.4(SCN1A):c.5792T>C (p.Leu1931Ser)
NM_001165963.4(SCN1A):c.5795del (p.Lys1932fs)
NM_001165963.4(SCN1A):c.5797C>T (p.Arg1933Ter) rs1351809843
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446
NM_001165963.4(SCN1A):c.5798G>C (p.Arg1933Pro) rs556893466
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.5819T>A (p.Phe1940Tyr)
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys) rs756845310
NM_001165963.4(SCN1A):c.5845G>T (p.Gly1949Cys) rs1216022727
NM_001165963.4(SCN1A):c.5851G>C (p.Ala1951Pro) rs376656165
NM_001165963.4(SCN1A):c.5855A>T (p.Asn1952Ile)
NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle) rs1553519782
NM_001165963.4(SCN1A):c.5860C>T (p.Leu1954Phe) rs1573941131
NM_001165963.4(SCN1A):c.5863A>G (p.Ile1955Val)
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met) rs796052952
NM_001165963.4(SCN1A):c.5869G>C (p.Glu1957Gln) rs1553519769
NM_001165963.4(SCN1A):c.5872G>A (p.Asp1958Asn)
NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)
NM_001165963.4(SCN1A):c.5882T>C (p.Ile1961Thr) rs760676898
NM_001165963.4(SCN1A):c.5885A>G (p.Asp1962Gly) rs1689109230
NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr)
NM_001165963.4(SCN1A):c.5905_5908dup (p.Thr1970fs)
NM_001165963.4(SCN1A):c.5929A>G (p.Met1977Val)
NM_001165963.4(SCN1A):c.5932T>A (p.Ser1978Thr) rs1553519733
NM_001165963.4(SCN1A):c.5933C>T (p.Ser1978Phe)
NM_001165963.4(SCN1A):c.5942C>A (p.Ala1981Asp) rs148986284
NM_001165963.4(SCN1A):c.5957A>G (p.Tyr1986Cys) rs1689099998
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197
NM_001165963.4(SCN1A):c.5971A>G (p.Lys1991Glu) rs755419624
NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys)
NM_001165963.4(SCN1A):c.5983G>C (p.Glu1995Gln)
NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys)
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) rs886055041
NM_001165963.4(SCN1A):c.6006_6008del (p.Lys2002_Asp2003delinsAsn) rs1689085952
NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu) rs761426364

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