ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 487
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258 0.00014
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr) rs374501252 0.00009
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys) rs148371904 0.00007
NM_001165963.4(SCN1A):c.140A>G (p.Asn47Ser) rs1296134461 0.00005
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) rs374767754 0.00005
NM_001165963.4(SCN1A):c.2590C>T (p.Leu864=) rs140035595 0.00004
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr) rs398123581 0.00003
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.1678C>T (p.Arg560Cys) rs768764142 0.00003
NM_001165963.4(SCN1A):c.2559A>C (p.Glu853Asp) rs764292628 0.00003
NM_001165963.4(SCN1A):c.2630A>G (p.Asn877Ser) rs751661051 0.00003
NM_001165963.4(SCN1A):c.384-9A>G rs371926865 0.00003
NM_001165963.4(SCN1A):c.778G>A (p.Val260Ile) rs775591652 0.00003
NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr) rs745664511 0.00003
NM_001165963.4(SCN1A):c.115C>A (p.Pro39Thr) rs968754992 0.00002
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326 0.00002
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) rs752639991 0.00002
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val) rs772487501 0.00002
NM_001165963.4(SCN1A):c.1028+6T>C rs1277925945 0.00001
NM_001165963.4(SCN1A):c.1039G>A (p.Glu347Lys) rs1004939915 0.00001
NM_001165963.4(SCN1A):c.1040A>G (p.Glu347Gly) rs904247739 0.00001
NM_001165963.4(SCN1A):c.1049T>A (p.Met350Lys) rs1283627130 0.00001
NM_001165963.4(SCN1A):c.1049T>C (p.Met350Thr) rs1283627130 0.00001
NM_001165963.4(SCN1A):c.1054G>A (p.Val352Met) rs779188944 0.00001
NM_001165963.4(SCN1A):c.1095T>C (p.Phe365=) rs758306481 0.00001
NM_001165963.4(SCN1A):c.1167A>G (p.Gln389=) rs1189160744 0.00001
NM_001165963.4(SCN1A):c.1170+3G>A rs1289808926 0.00001
NM_001165963.4(SCN1A):c.1195T>C (p.Tyr399His) rs796052974 0.00001
NM_001165963.4(SCN1A):c.11C>T (p.Thr4Ile) rs374317182 0.00001
NM_001165963.4(SCN1A):c.125A>C (p.Lys42Thr) rs760777182 0.00001
NM_001165963.4(SCN1A):c.1327G>A (p.Glu443Lys) rs1300925640 0.00001
NM_001165963.4(SCN1A):c.1351C>T (p.Leu451Phe) rs752256219 0.00001
NM_001165963.4(SCN1A):c.1360C>A (p.Gln454Lys) rs1465196014 0.00001
NM_001165963.4(SCN1A):c.1366G>C (p.Glu456Gln) rs1375242070 0.00001
NM_001165963.4(SCN1A):c.1396G>A (p.Ala466Thr) rs762652516 0.00001
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) rs1697679015 0.00001
NM_001165963.4(SCN1A):c.1485G>T (p.Lys495Asn) rs201362569 0.00001
NM_001165963.4(SCN1A):c.1487A>G (p.Glu496Gly) rs772103115 0.00001
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) rs141188608 0.00001
NM_001165963.4(SCN1A):c.1573T>C (p.Ser525Pro) rs2105850864 0.00001
NM_001165963.4(SCN1A):c.1579G>A (p.Asp527Asn) rs1191091069 0.00001
NM_001165963.4(SCN1A):c.1663-3T>C rs766418091 0.00001
NM_001165963.4(SCN1A):c.1668G>T (p.Leu556Phe) rs762975379 0.00001
NM_001165963.4(SCN1A):c.1679G>A (p.Arg560His) rs746769373 0.00001
NM_001165963.4(SCN1A):c.1706A>G (p.Asn569Ser) rs796052978 0.00001
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg) rs753050564 0.00001
NM_001165963.4(SCN1A):c.1757C>T (p.Ser586Phe) rs1697487602 0.00001
NM_001165963.4(SCN1A):c.1779T>G (p.Asp593Glu) rs1201949487 0.00001
NM_001165963.4(SCN1A):c.1817A>G (p.Asp606Gly) rs748797259 0.00001
NM_001165963.4(SCN1A):c.1850G>A (p.Arg617Lys) rs1697451634 0.00001
NM_001165963.4(SCN1A):c.187T>C (p.Phe63Leu) rs121917907 0.00001
NM_001165963.4(SCN1A):c.1933G>T (p.Val645Leu) rs747681959 0.00001
NM_001165963.4(SCN1A):c.1967G>T (p.Gly656Val) rs1304701712 0.00001
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu) rs570326929 0.00001
NM_001165963.4(SCN1A):c.2015T>C (p.Ile672Thr) rs757361260 0.00001
NM_001165963.4(SCN1A):c.2043T>C (p.Asn681=) rs754934003 0.00001
NM_001165963.4(SCN1A):c.2102T>G (p.Met701Arg) rs763445773 0.00001
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro) rs1131691747 0.00001
NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln) rs138799232 0.00001
NM_001165963.4(SCN1A):c.2143A>C (p.Ser715Arg) rs1349978357 0.00001
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) rs1247949520 0.00001
NM_001165963.4(SCN1A):c.2215T>C (p.Tyr739His) rs768736409 0.00001
NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys) rs778852888 0.00001
NM_001165963.4(SCN1A):c.2248T>G (p.Cys750Gly) rs1412626408 0.00001
NM_001165963.4(SCN1A):c.2294T>C (p.Val765Ala) rs1302724105 0.00001
NM_001165963.4(SCN1A):c.2385T>G (p.His795Gln) rs1334303970 0.00001
NM_001165963.4(SCN1A):c.2416-10T>G rs1696892038 0.00001
NM_001165963.4(SCN1A):c.2468A>G (p.Asp823Gly) rs1035633632 0.00001
NM_001165963.4(SCN1A):c.2474A>C (p.Tyr825Ser) rs780963881 0.00001
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys) rs1422284356 0.00001
NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu) rs1299251889 0.00001
NM_001165963.4(SCN1A):c.2509G>A (p.Gly837Ser) rs779561135 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072 0.00001
NM_001165963.4(SCN1A):c.257A>G (p.Asn86Ser) rs1004366186 0.00001
NM_001165963.4(SCN1A):c.25C>G (p.Pro9Ala) rs757688309 0.00001
NM_001165963.4(SCN1A):c.264+3G>A rs746440689 0.00001
NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn) rs1025532519 0.00001
NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met) rs368663649 0.00001
NM_001165963.4(SCN1A):c.2701G>A (p.Val901Ile) rs12617205 0.00001
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser) rs796052984 0.00001
NM_001165963.4(SCN1A):c.2784A>C (p.Gln928His) rs138376436 0.00001
NM_001165963.4(SCN1A):c.2899A>G (p.Met967Val) rs1696609643 0.00001
NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val) rs121917991 0.00001
NM_001165963.4(SCN1A):c.3008C>T (p.Thr1003Ile) rs1343188948 0.00001
NM_001165963.4(SCN1A):c.3018T>G (p.Asp1006Glu) rs375909896 0.00001
NM_001165963.4(SCN1A):c.3058C>G (p.His1020Asp) rs1299891871 0.00001
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn) rs796053089 0.00001
NM_001165963.4(SCN1A):c.322C>G (p.Leu108Val) rs779413164 0.00001
NM_001165963.4(SCN1A):c.32C>A (p.Pro11His) rs1350460260 0.00001
NM_001165963.4(SCN1A):c.418A>G (p.Thr140Ala) rs796052956 0.00001
NM_001165963.4(SCN1A):c.452C>T (p.Pro151Leu) rs1699141193 0.00001
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) rs1559245947 0.00001
NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp) rs1419611654 0.00001
NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile) rs569880910 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001165963.4(SCN1A):c.695G>A (p.Gly232Asp) rs1228436536 0.00001
NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys) rs1285055471 0.00001
NM_001165963.4(SCN1A):c.853G>T (p.Ala285Ser) rs777386001 0.00001
NM_001165963.4(SCN1A):c.97A>G (p.Lys33Glu) rs375913842 0.00001
NC_000002.11:g.(?_166847755)_(166872257_?)dup
NC_000002.11:g.(?_166847755)_(166930131_?)dup
NC_000002.11:g.(?_166856213)_(166868812_?)dup
NC_000002.12:g.(?_166036028)_(166039616_?)dup
NM_001165963.4(SCN1A):c.100G>A (p.Ala34Thr)
NM_001165963.4(SCN1A):c.1012A>T (p.Asn338Tyr) rs2468199397
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser) rs1553548063
NM_001165963.4(SCN1A):c.1029-3C>T rs2468190781
NM_001165963.4(SCN1A):c.1029-5T>G rs2105868433
NM_001165963.4(SCN1A):c.1029-7C>G rs1698033637
NM_001165963.4(SCN1A):c.1029C>G (p.Gly343=) rs1698032277
NM_001165963.4(SCN1A):c.1042G>A (p.Gly348Arg)
NM_001165963.4(SCN1A):c.1043G>C (p.Gly348Ala)
NM_001165963.4(SCN1A):c.1043G>T (p.Gly348Val) rs2105868181
NM_001165963.4(SCN1A):c.1051T>A (p.Cys351Ser) rs2105868016
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) rs1698022280
NM_001165963.4(SCN1A):c.1064G>T (p.Gly355Val) rs1698021918
NM_001165963.4(SCN1A):c.1085A>G (p.Tyr362Cys) rs2468189862
NM_001165963.4(SCN1A):c.1088C>A (p.Thr363Lys) rs756201239
NM_001165963.4(SCN1A):c.1091G>A (p.Ser364Asn) rs752775574
NM_001165963.4(SCN1A):c.1091G>C (p.Ser364Thr) rs752775574
NM_001165963.4(SCN1A):c.1094T>C (p.Phe365Ser) rs1553547493
NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile) rs1698011519
NM_001165963.4(SCN1A):c.1101C>T (p.Thr367=) rs2468189503
NM_001165963.4(SCN1A):c.110C>A (p.Pro37His)
NM_001165963.4(SCN1A):c.1110G>T (p.Trp370Cys) rs1553547454
NM_001165963.4(SCN1A):c.1117T>G (p.Leu373Val) rs1698008539
NM_001165963.4(SCN1A):c.1132C>T (p.Leu378=) rs1698004482
NM_001165963.4(SCN1A):c.1139C>T (p.Thr380Ile) rs2468188806
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys) rs1553547403
NM_001165963.4(SCN1A):c.1166A>C (p.Gln389Pro) rs2105866610
NM_001165963.4(SCN1A):c.1170+3_1170+4delinsTT rs2105866527
NM_001165963.4(SCN1A):c.1170+5G>C rs1057524737
NM_001165963.4(SCN1A):c.1170+5G>T rs1057524737
NM_001165963.4(SCN1A):c.1171-3C>T rs2468182888
NM_001165963.4(SCN1A):c.1171A>T (p.Thr391Ser) rs1697917375
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser) rs2105862926
NM_001165963.4(SCN1A):c.1181_1182delinsGA (p.Ala394Gly) rs1559226096
NM_001165963.4(SCN1A):c.1189A>G (p.Lys397Glu)
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val) rs1697908394
NM_001165963.4(SCN1A):c.1205T>G (p.Phe402Cys) rs2468182230
NM_001165963.4(SCN1A):c.1228G>C (p.Gly410Arg) rs1574235136
NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr) rs1697902111
NM_001165963.4(SCN1A):c.1272G>A (p.Met424Ile) rs1697897988
NM_001165963.4(SCN1A):c.1274C>T (p.Ala425Val) rs1697897304
NM_001165963.4(SCN1A):c.127G>C (p.Asp43His) rs2468366239
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) rs1697892980
NM_001165963.4(SCN1A):c.1313A>G (p.Glu438Gly) rs2105861457
NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del) rs1697886499
NM_001165963.4(SCN1A):c.1327G>C (p.Glu443Gln) rs1300925640
NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val) rs777596738
NM_001165963.4(SCN1A):c.134A>G (p.Asp45Gly) rs1559284606
NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT rs2468179553
NM_001165963.4(SCN1A):c.1377+3A>C rs1060502191
NM_001165963.4(SCN1A):c.1377+6G>T rs1574233195
NM_001165963.4(SCN1A):c.1378-12_1378-8del rs2468170007
NM_001165963.4(SCN1A):c.1378-3T>G rs150964803
NM_001165963.4(SCN1A):c.1378-4dup rs2468169929
NM_001165963.4(SCN1A):c.1381G>A (p.Ala461Thr)
NM_001165963.4(SCN1A):c.1393A>G (p.Thr465Ala) rs2105852658
NM_001165963.4(SCN1A):c.1404A>C (p.Glu468Asp) rs747528512
NM_001165963.4(SCN1A):c.1411A>G (p.Arg471Gly) rs1553545793
NM_001165963.4(SCN1A):c.1426G>A (p.Ala476Thr)
NM_001165963.4(SCN1A):c.1478G>C (p.Ser493Thr) rs1697671710
NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg) rs200545739
NM_001165963.4(SCN1A):c.1493G>C (p.Arg498Thr) rs1448731908
NM_001165963.4(SCN1A):c.1508A>G (p.Lys503Arg) rs2468167659
NM_001165963.4(SCN1A):c.1511G>T (p.Arg504Ile) rs2105851522
NM_001165963.4(SCN1A):c.1512A>C (p.Arg504Ser) rs1233541206
NM_001165963.4(SCN1A):c.1522G>C (p.Glu508Gln) rs781087488
NM_001165963.4(SCN1A):c.1531G>C (p.Gly511Arg) rs1559220753
NM_001165963.4(SCN1A):c.1538A>G (p.Glu513Gly) rs1553545586
NM_001165963.4(SCN1A):c.1556A>G (p.Glu519Gly) rs2468166505
NM_001165963.4(SCN1A):c.1567T>C (p.Ser523Pro) rs1490675512
NM_001165963.4(SCN1A):c.1573T>A (p.Ser525Thr) rs2105850864
NM_001165963.4(SCN1A):c.1589G>T (p.Arg530Met)
NM_001165963.4(SCN1A):c.1594A>G (p.Lys532Glu) rs1553545507
NM_001165963.4(SCN1A):c.1604G>C (p.Arg535Pro) rs184524479
NM_001165963.4(SCN1A):c.1622A>G (p.Asn541Ser) rs1697635871
NM_001165963.4(SCN1A):c.163T>A (p.Leu55Met)
NM_001165963.4(SCN1A):c.1648TCC[1] (p.Ser551del) rs1391693620
NM_001165963.4(SCN1A):c.1657C>T (p.His553Tyr) rs1697628486
NM_001165963.4(SCN1A):c.1659C>A (p.His553Gln) rs2468164562
NM_001165963.4(SCN1A):c.1663-19_1663-5del
NM_001165963.4(SCN1A):c.1678C>G (p.Arg560Gly) rs768764142
NM_001165963.4(SCN1A):c.1694C>T (p.Ser565Leu) rs2468156189
NM_001165963.4(SCN1A):c.1700G>A (p.Arg567Lys) rs1176739172
NM_001165963.4(SCN1A):c.1708A>T (p.Ser570Cys) rs2105844454
NM_001165963.4(SCN1A):c.1712G>A (p.Arg571Lys) rs1697493699
NM_001165963.4(SCN1A):c.1719C>G (p.Ser573Arg) rs748767737
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn) rs1697492585
NM_001165963.4(SCN1A):c.1750G>A (p.Val584Met) rs1446864595
NM_001165963.4(SCN1A):c.1765G>A (p.Asp589Asn) rs781481818
NM_001165963.4(SCN1A):c.1770C>A (p.Phe590Leu) rs146520391
NM_001165963.4(SCN1A):c.1771G>A (p.Ala591Thr) rs1437209028
NM_001165963.4(SCN1A):c.1780G>A (p.Glu594Lys) rs1553544844
NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del) rs796053061
NM_001165963.4(SCN1A):c.1801A>G (p.Asn601Asp) rs1697474227
NM_001165963.4(SCN1A):c.1805A>G (p.Glu602Gly) rs2105843593
NM_001165963.4(SCN1A):c.1808G>A (p.Ser603Asn) rs1697471204
NM_001165963.4(SCN1A):c.1809C>A (p.Ser603Arg) rs2468154048
NM_001165963.4(SCN1A):c.1810C>A (p.Arg604Ser)
NM_001165963.4(SCN1A):c.1817A>T (p.Asp606Val) rs748797259
NM_001165963.4(SCN1A):c.1819T>A (p.Ser607Thr) rs967989950
NM_001165963.4(SCN1A):c.1822T>A (p.Leu608Met) rs777327423
NM_001165963.4(SCN1A):c.1825T>C (p.Phe609Leu) rs2105843262
NM_001165963.4(SCN1A):c.1828G>A (p.Val610Met) rs1697461832
NM_001165963.4(SCN1A):c.1840C>T (p.His614Tyr) rs1213758058
NM_001165963.4(SCN1A):c.1842C>G (p.His614Gln) rs370463183
NM_001165963.4(SCN1A):c.1847A>C (p.Glu616Ala)
NM_001165963.4(SCN1A):c.1849A>G (p.Arg617Gly) rs1553544701
NM_001165963.4(SCN1A):c.1852C>A (p.Arg618Ser) rs750516202
NM_001165963.4(SCN1A):c.1858A>T (p.Ser620Cys) rs2468152624
NM_001165963.4(SCN1A):c.1865T>G (p.Leu622Arg) rs2468152542
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg) rs1183164202
NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro) rs145670933
NM_001165963.4(SCN1A):c.1892T>C (p.Met631Thr) rs2468152143
NM_001165963.4(SCN1A):c.1903T>C (p.Phe635Leu) rs2468151979
NM_001165963.4(SCN1A):c.1915G>A (p.Gly639Arg) rs1229056379
NM_001165963.4(SCN1A):c.1920G>T (p.Lys640Asn) rs1697434336
NM_001165963.4(SCN1A):c.1923G>A (p.Met641Ile) rs2105842235
NM_001165963.4(SCN1A):c.1936G>A (p.Asp646Asn) rs1553544581
NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met) rs398123586
NM_001165963.4(SCN1A):c.1959G>C (p.Leu653Phe) rs1697427696
NM_001165963.4(SCN1A):c.1961T>C (p.Val654Ala) rs1697427369
NM_001165963.4(SCN1A):c.1975G>A (p.Val659Ile) rs1559215483
NM_001165963.4(SCN1A):c.1976T>C (p.Val659Ala) rs2468150808
NM_001165963.4(SCN1A):c.1978C>A (p.Pro660Thr) rs2468150792
NM_001165963.4(SCN1A):c.2011G>T (p.Val671Leu) rs779308039
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001165963.4(SCN1A):c.2043T>G (p.Asn681Lys) rs754934003
NM_001165963.4(SCN1A):c.2044-20_2051dup rs1288412817
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg) rs1398374184
NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile) rs1574209746
NM_001165963.4(SCN1A):c.205C>T (p.Pro69Ser)
NM_001165963.4(SCN1A):c.2062G>A (p.Glu688Lys) rs1553543946
NM_001165963.4(SCN1A):c.2066T>C (p.Met689Thr) rs1559213016
NM_001165963.4(SCN1A):c.2068A>G (p.Arg690Gly) rs939867202
NM_001165963.4(SCN1A):c.208C>A (p.Pro70Thr) rs2105982466
NM_001165963.4(SCN1A):c.2110C>G (p.Leu704Val) rs2105835263
NM_001165963.4(SCN1A):c.2120C>T (p.Pro707Leu) rs2468141177
NM_001165963.4(SCN1A):c.2123C>T (p.Ser708Phe) rs2468141157
NM_001165963.4(SCN1A):c.2137G>A (p.Ala713Thr) rs1697283181
NM_001165963.4(SCN1A):c.2140A>G (p.Met714Val) rs1697282256
NM_001165963.4(SCN1A):c.2141T>C (p.Met714Thr) rs2468140928
NM_001165963.4(SCN1A):c.2142G>A (p.Met714Ile)
NM_001165963.4(SCN1A):c.2156T>A (p.Ile719Asn) rs1553543839
NM_001165963.4(SCN1A):c.215T>C (p.Met72Thr) rs2468364695
NM_001165963.4(SCN1A):c.2162C>T (p.Thr721Ile)
NM_001165963.4(SCN1A):c.2164A>G (p.Asn722Asp) rs1341631584
NM_001165963.4(SCN1A):c.2167_2176+13dup rs2468140302
NM_001165963.4(SCN1A):c.2168C>T (p.Thr723Ile) rs2468140655
NM_001165963.4(SCN1A):c.2170G>A (p.Val724Ile) rs771260698
NM_001165963.4(SCN1A):c.217G>C (p.Val73Leu)
NM_001165963.4(SCN1A):c.2183A>G (p.Glu728Gly) rs2468133106
NM_001165963.4(SCN1A):c.2185G>A (p.Glu729Lys)
NM_001165963.4(SCN1A):c.218T>C (p.Val73Ala)
NM_001165963.4(SCN1A):c.2191A>G (p.Arg731Gly) rs2105829492
NM_001165963.4(SCN1A):c.2192G>T (p.Arg731Met) rs1697167725
NM_001165963.4(SCN1A):c.2203C>G (p.Pro735Ala) rs2468132801
NM_001165963.4(SCN1A):c.2219A>T (p.Lys740Ile) rs2468132494
NM_001165963.4(SCN1A):c.2230A>G (p.Ile744Val) rs2105829122
NM_001165963.4(SCN1A):c.2238A>T (p.Leu746Phe)
NM_001165963.4(SCN1A):c.2245G>T (p.Asp749Tyr) rs1697156587
NM_001165963.4(SCN1A):c.2247C>G (p.Asp749Glu) rs1697155906
NM_001165963.4(SCN1A):c.2248T>A (p.Cys750Ser) rs1412626408
NM_001165963.4(SCN1A):c.2252C>T (p.Ser751Phe) rs2105828879
NM_001165963.4(SCN1A):c.2257T>C (p.Tyr753His) rs2468131879
NM_001165963.4(SCN1A):c.2260T>C (p.Trp754Arg)
NM_001165963.4(SCN1A):c.2262G>C (p.Trp754Cys) rs1553543323
NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu) rs1426666349
NM_001165963.4(SCN1A):c.2269G>A (p.Val757Met) rs1697152393
NM_001165963.4(SCN1A):c.226C>T (p.Pro76Ser) rs1574371737
NM_001165963.4(SCN1A):c.2278G>T (p.Val760Phe) rs1574203036
NM_001165963.4(SCN1A):c.2284A>G (p.Asn762Asp) rs2105828579
NM_001165963.4(SCN1A):c.2287C>A (p.Leu763Met) rs777256667
NM_001165963.4(SCN1A):c.2288T>C (p.Leu763Pro)
NM_001165963.4(SCN1A):c.2292_2293inv (p.Val765Met)
NM_001165963.4(SCN1A):c.2297T>G (p.Met766Arg) rs2105828429
NM_001165963.4(SCN1A):c.2300A>G (p.Asp767Gly) rs759152714
NM_001165963.4(SCN1A):c.2311G>A (p.Asp771Asn) rs2468131029
NM_001165963.4(SCN1A):c.2327T>A (p.Ile776Asn)
NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr) rs2105828112
NM_001165963.4(SCN1A):c.2332A>G (p.Ile778Val) rs2105828062
NM_001165963.4(SCN1A):c.2344A>T (p.Thr782Ser) rs1574202324
NM_001165963.4(SCN1A):c.2366A>T (p.His789Leu) rs2468130308
NM_001165963.4(SCN1A):c.2371C>G (p.Pro791Ala) rs1697132427
NM_001165963.4(SCN1A):c.2371C>T (p.Pro791Ser)
NM_001165963.4(SCN1A):c.2372C>A (p.Pro791Gln) rs1697132063
NM_001165963.4(SCN1A):c.2372C>T (p.Pro791Leu) rs1697132063
NM_001165963.4(SCN1A):c.2374A>G (p.Met792Val) rs1224866991
NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn) rs1360811002
NM_001165963.4(SCN1A):c.2380G>C (p.Asp794His) rs1360811002
NM_001165963.4(SCN1A):c.2389A>G (p.Asn797Asp) rs2468129990
NM_001165963.4(SCN1A):c.238C>G (p.Leu80Val) rs2105982158
NM_001165963.4(SCN1A):c.2399T>C (p.Leu800Pro) rs2105827389
NM_001165963.4(SCN1A):c.2403A>G (p.Thr801=) rs1697127852
NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile) rs1057518467
NM_001165963.4(SCN1A):c.2413T>G (p.Leu805Val) rs2468129557
NM_001165963.4(SCN1A):c.2415+16G>A rs1181636868
NM_001165963.4(SCN1A):c.2415+3_2415+24del rs1553543127
NM_001165963.4(SCN1A):c.2415+5G>A
NM_001165963.4(SCN1A):c.2415G>T (p.Leu805Phe) rs1697125571
NM_001165963.4(SCN1A):c.2416-35_2419dup rs1696890186
NM_001165963.4(SCN1A):c.2416-6T>G rs2105817829
NM_001165963.4(SCN1A):c.2422A>C (p.Thr808Pro) rs121918758
NM_001165963.4(SCN1A):c.2431T>G (p.Phe811Val) rs2468115681
NM_001165963.4(SCN1A):c.2437G>A (p.Ala813Thr) rs769586914
NM_001165963.4(SCN1A):c.2443_2445del (p.Met815del) rs1696886277
NM_001165963.4(SCN1A):c.244C>T (p.Pro82Ser) rs2468363881
NM_001165963.4(SCN1A):c.245C>T (p.Pro82Leu) rs2105982111
NM_001165963.4(SCN1A):c.2470C>A (p.Pro824Thr) rs2468115044
NM_001165963.4(SCN1A):c.2474A>G (p.Tyr825Cys) rs780963881
NM_001165963.4(SCN1A):c.2479T>C (p.Tyr827His)
NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg) rs1299251889
NM_001165963.4(SCN1A):c.2500A>G (p.Ile834Val)
NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser) rs796052981
NM_001165963.4(SCN1A):c.2508C>A (p.Asp836Glu) rs575554223
NM_001165963.4(SCN1A):c.2508C>G (p.Asp836Glu)
NM_001165963.4(SCN1A):c.2515_2517del (p.Ile839del) rs2105817035
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr) rs2105817051
NM_001165963.4(SCN1A):c.2518G>A (p.Val840Met) rs1574192730
NM_001165963.4(SCN1A):c.2531T>G (p.Leu844Arg) rs2468113829
NM_001165963.4(SCN1A):c.253A>G (p.Ile85Val) rs1574371287
NM_001165963.4(SCN1A):c.2548G>A (p.Ala850Thr) rs757616558
NM_001165963.4(SCN1A):c.2552A>T (p.Asn851Ile) rs561912072
NM_001165963.4(SCN1A):c.2557G>A (p.Glu853Lys) rs1553542232
NM_001165963.4(SCN1A):c.256A>C (p.Asn86His) rs2468363533
NM_001165963.4(SCN1A):c.2570T>C (p.Val857Ala) rs2468113041
NM_001165963.4(SCN1A):c.2589+7A>G rs2468112565
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
NM_001165963.4(SCN1A):c.2591T>A (p.Leu864Gln) rs759632616
NM_001165963.4(SCN1A):c.2599T>C (p.Phe867Leu)
NM_001165963.4(SCN1A):c.2601C>A (p.Phe867Leu) rs2105808775
NM_001165963.4(SCN1A):c.2608G>A (p.Ala870Thr) rs2468100979
NM_001165963.4(SCN1A):c.2608G>C (p.Ala870Pro)
NM_001165963.4(SCN1A):c.2609C>A (p.Ala870Glu) rs2468100956
NM_001165963.4(SCN1A):c.2611A>G (p.Lys871Glu) rs1553541525
NM_001165963.4(SCN1A):c.2624C>G (p.Thr875Arg) rs121918623
NM_001165963.4(SCN1A):c.2641A>G (p.Lys881Glu) rs1553541502
NM_001165963.4(SCN1A):c.265-3C>T rs1553553614
NM_001165963.4(SCN1A):c.2650G>A (p.Gly884Ser)
NM_001165963.4(SCN1A):c.2650G>C (p.Gly884Arg) rs1253956567
NM_001165963.4(SCN1A):c.2651_2656del (p.Gly884_Ser886delinsAla) rs1553541493
NM_001165963.4(SCN1A):c.266C>T (p.Thr89Ile) rs1574302474
NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser) rs1553541455
NM_001165963.4(SCN1A):c.2681C>A (p.Thr894Asn) rs796052983
NM_001165963.4(SCN1A):c.2695A>G (p.Ile899Val) rs778340657
NM_001165963.4(SCN1A):c.2696T>A (p.Ile899Asn)
NM_001165963.4(SCN1A):c.2698A>G (p.Ile900Val) rs1696655187
NM_001165963.4(SCN1A):c.2701_2706dup (p.Phe902_Ile903insValPhe) rs2468098997
NM_001165963.4(SCN1A):c.2716G>C (p.Val906Leu) rs185760342
NM_001165963.4(SCN1A):c.2720T>C (p.Val907Ala)
NM_001165963.4(SCN1A):c.2725A>G (p.Met909Val) rs2468098506
NM_001165963.4(SCN1A):c.2726T>G (p.Met909Arg) rs1559200116
NM_001165963.4(SCN1A):c.2732T>C (p.Leu911Pro) rs2468098342
NM_001165963.4(SCN1A):c.2734T>C (p.Phe912Leu)
NM_001165963.4(SCN1A):c.2737G>C (p.Gly913Arg) rs1696648191
NM_001165963.4(SCN1A):c.2738G>T (p.Gly913Val) rs2468098251
NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn) rs2468098151
NM_001165963.4(SCN1A):c.2747A>G (p.Tyr916Cys) rs1559200027
NM_001165963.4(SCN1A):c.2767A>G (p.Ile923Val) rs2105807305
NM_001165963.4(SCN1A):c.2771C>T (p.Ala924Val) rs1696642330
NM_001165963.4(SCN1A):c.2783A>C (p.Gln928Pro) rs1060502192
NM_001165963.4(SCN1A):c.2798A>T (p.His933Leu) rs1696637467
NM_001165963.4(SCN1A):c.2803A>T (p.Asn935Tyr) rs2105806890
NM_001165963.4(SCN1A):c.2806G>A (p.Asp936Asn) rs796052988
NM_001165963.4(SCN1A):c.2812T>A (p.Phe938Ile) rs2468096883
NM_001165963.4(SCN1A):c.2858T>C (p.Ile953Thr) rs1696621654
NM_001165963.4(SCN1A):c.2871G>C (p.Trp957Cys) rs1553541157
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) rs121918750
NM_001165963.4(SCN1A):c.2891G>C (p.Gly964Ala) rs2468095030
NM_001165963.4(SCN1A):c.2891G>T (p.Gly964Val) rs2468095030
NM_001165963.4(SCN1A):c.2926A>G (p.Met976Val)
NM_001165963.4(SCN1A):c.2931G>A (p.Val977=)
NM_001165963.4(SCN1A):c.293C>T (p.Ala98Val) rs2105918454
NM_001165963.4(SCN1A):c.2944G>A (p.Val982Met) rs2468093782
NM_001165963.4(SCN1A):c.2946+4T>C rs1390205269
NM_001165963.4(SCN1A):c.2947-10T>A rs1696409431
NM_001165963.4(SCN1A):c.2977A>G (p.Ser993Gly) rs2468081385
NM_001165963.4(SCN1A):c.2990C>T (p.Ala997Val)
NM_001165963.4(SCN1A):c.2997C>A (p.Asn999Lys)
NM_001165963.4(SCN1A):c.29G>C (p.Gly10Ala) rs2468367995
NM_001165963.4(SCN1A):c.3019A>G (p.Asn1007Asp) rs1696389624
NM_001165963.4(SCN1A):c.3035T>C (p.Leu1012Pro)
NM_001165963.4(SCN1A):c.3043G>A (p.Ala1015Thr) rs2468080487
NM_001165963.4(SCN1A):c.319G>T (p.Ala107Ser) rs745404213
NM_001165963.4(SCN1A):c.31C>T (p.Pro11Ser) rs1684706255
NM_001165963.4(SCN1A):c.326A>T (p.Tyr109Phe)
NM_001165963.4(SCN1A):c.329T>A (p.Ile110Asn) rs2468272300
NM_001165963.4(SCN1A):c.340T>G (p.Phe114Val) rs2468272169
NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser) rs1699357096
NM_001165963.4(SCN1A):c.353G>A (p.Arg118Lys) rs2468271994
NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val) rs1405137253
NM_001165963.4(SCN1A):c.367A>G (p.Lys123Glu)
NM_001165963.4(SCN1A):c.371T>G (p.Ile124Ser) rs121918761
NM_001165963.4(SCN1A):c.373T>G (p.Leu125Val) rs2468271656
NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile) rs1699350822
NM_001165963.4(SCN1A):c.377T>A (p.Val126Glu) rs1699350522
NM_001165963.4(SCN1A):c.377T>C (p.Val126Ala) rs1699350522
NM_001165963.4(SCN1A):c.377T>G (p.Val126Gly) rs1699350522
NM_001165963.4(SCN1A):c.383+6C>T
NM_001165963.4(SCN1A):c.384-3T>G rs368381487
NM_001165963.4(SCN1A):c.392G>A (p.Ser131Asn) rs1699154477
NM_001165963.4(SCN1A):c.393C>G (p.Ser131Arg) rs1574290971
NM_001165963.4(SCN1A):c.397C>A (p.Leu133Ile) rs1553552411
NM_001165963.4(SCN1A):c.398T>G (p.Leu133Arg) rs1131691440
NM_001165963.4(SCN1A):c.404T>A (p.Met135Lys) rs1574290850
NM_001165963.4(SCN1A):c.408C>G (p.Cys136Trp) rs188021041
NM_001165963.4(SCN1A):c.424T>C (p.Cys142Arg) rs2468258606
NM_001165963.4(SCN1A):c.441G>A (p.Met147Ile) rs2468258427
NM_001165963.4(SCN1A):c.447C>A (p.Asn149Lys) rs1484003948
NM_001165963.4(SCN1A):c.452C>A (p.Pro151His) rs1699141193
NM_001165963.4(SCN1A):c.460A>G (p.Thr154Ala) rs1317965295
NM_001165963.4(SCN1A):c.468T>A (p.Asn156Lys) rs1250844959
NM_001165963.4(SCN1A):c.468T>G (p.Asn156Lys) rs1250844959
NM_001165963.4(SCN1A):c.46TTC[1] (p.Phe17del) rs2105984083
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.49T>A (p.Phe17Ile)
NM_001165963.4(SCN1A):c.502G>A (p.Glu168Lys) rs1553551483
NM_001165963.4(SCN1A):c.509T>A (p.Leu170His) rs1064793315
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met) rs1283681963
NM_001165963.4(SCN1A):c.532T>C (p.Phe178Leu) rs1698952099
NM_001165963.4(SCN1A):c.533T>C (p.Phe178Ser) rs1698951764
NM_001165963.4(SCN1A):c.541G>A (p.Glu181Lys) rs1553551431
NM_001165963.4(SCN1A):c.544G>C (p.Asp182His)
NM_001165963.4(SCN1A):c.550A>G (p.Thr184Ala) rs368798811
NM_001165963.4(SCN1A):c.551C>T (p.Thr184Ile) rs1698949011
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) rs886055046
NM_001165963.4(SCN1A):c.56G>A (p.Arg19Lys) rs1479913332
NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg) rs1698944269
NM_001165963.4(SCN1A):c.592A>G (p.Ile198Val) rs2468246306
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile) rs121917983
NM_001165963.4(SCN1A):c.602+5G>A rs2468246115
NM_001165963.4(SCN1A):c.603-17_603-12delinsACGTA rs2468234185
NM_001165963.4(SCN1A):c.603-3C>A
NM_001165963.4(SCN1A):c.603G>A (p.Ala201=) rs2468233998
NM_001165963.4(SCN1A):c.605A>G (p.Tyr202Cys) rs2468233969
NM_001165963.4(SCN1A):c.622G>A (p.Asp208Asn) rs1698748633
NM_001165963.4(SCN1A):c.632A>C (p.Asn211Thr) rs1553550618
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser) rs1553550618
NM_001165963.4(SCN1A):c.640G>A (p.Ala214Thr) rs1574272597
NM_001165963.4(SCN1A):c.647G>C (p.Arg216Thr)
NM_001165963.4(SCN1A):c.662_663delinsAT (p.Leu221His) rs2468233018
NM_001165963.4(SCN1A):c.664C>G (p.Arg222Gly) rs121918624
NM_001165963.4(SCN1A):c.665G>A (p.Arg222Gln)
NM_001165963.4(SCN1A):c.685G>C (p.Val229Leu) rs1698732758
NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu) rs139397227
NM_001165963.4(SCN1A):c.692C>T (p.Pro231Leu) rs1574271532
NM_001165963.4(SCN1A):c.694+3G>A rs2468232455
NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu) rs1553549993
NM_001165963.4(SCN1A):c.709G>A (p.Val237Met) rs2468225315
NM_001165963.4(SCN1A):c.71C>G (p.Ala24Gly) rs1489662325
NM_001165963.4(SCN1A):c.725A>T (p.Gln242Leu) rs1574266328
NM_001165963.4(SCN1A):c.749T>C (p.Val250Ala) rs1553549845
NM_001165963.4(SCN1A):c.772C>A (p.Leu258Met)
NM_001165963.4(SCN1A):c.773T>G (p.Leu258Arg) rs2468223963
NM_001165963.4(SCN1A):c.7C>A (p.Gln3Lys) rs924198007
NM_001165963.4(SCN1A):c.808A>G (p.Met270Val) rs2468223386
NM_001165963.4(SCN1A):c.809T>C (p.Met270Thr) rs1444023925
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile) rs2105889888
NM_001165963.4(SCN1A):c.825T>A (p.Asn275Lys) rs2105889740
NM_001165963.4(SCN1A):c.833T>C (p.Ile278Thr) rs1559238215
NM_001165963.4(SCN1A):c.834A>G (p.Ile278Met) rs2468222903
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) rs1553549660
NM_001165963.4(SCN1A):c.845C>A (p.Pro282His) rs1698591690
NM_001165963.4(SCN1A):c.861G>C (p.Leu287Phe) rs568461410
NM_001165963.4(SCN1A):c.869A>G (p.His290Arg)
NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr) rs773935383
NM_001165963.4(SCN1A):c.871A>G (p.Ser291Gly) rs2105889285
NM_001165963.4(SCN1A):c.87T>G (p.Ile29Met) rs758963153
NM_001165963.4(SCN1A):c.882G>T (p.Lys294Asn) rs2105889139
NM_001165963.4(SCN1A):c.901A>G (p.Asn301Asp) rs2468221685
NM_001165963.4(SCN1A):c.905G>T (p.Gly302Val) rs2468221604
NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys) rs1017574442
NM_001165963.4(SCN1A):c.925G>A (p.Val309Ile)
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del) rs2105888808
NM_001165963.4(SCN1A):c.947_952dup (p.Tyr317_Ile318insThrTyr) rs2468220805
NM_001165963.4(SCN1A):c.94G>A (p.Glu32Lys) rs1553560889
NM_001165963.4(SCN1A):c.956A>G (p.Gln319Arg) rs2105888544
NM_001165963.4(SCN1A):c.958G>T (p.Asp320Tyr) rs777317949
NM_001165963.4(SCN1A):c.964+4A>T rs2468220454
NM_001165963.4(SCN1A):c.964+4_964+5insAAGATTCAAGTAAAAAAANNNNNGGCCGGGCGCGGTGGCTCACGCCTGTAA rs2468220469
NM_001165963.4(SCN1A):c.965-3C>A rs1698197579
NM_001165963.4(SCN1A):c.967T>A (p.Tyr323Asn) rs2105874638
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg) rs796053093
NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly) rs796052969

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