ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by Invitae

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Total variants: 420
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037 0.00001
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) rs1696373154
NM_001165963.4(SCN1A):c.3109_3119del (p.Ser1037fs) rs2105795955
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) rs1553540342
NM_001165963.4(SCN1A):c.3124del (p.Gln1042fs)
NM_001165963.4(SCN1A):c.3139G>T (p.Glu1047Ter) rs776984527
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs) rs1696358124
NM_001165963.4(SCN1A):c.3180_3181insA (p.Cys1061fs) rs1696356978
NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter) rs1553540294
NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs) rs1574169179
NM_001165963.4(SCN1A):c.3241G>T (p.Gly1081Ter) rs1248613652
NM_001165963.4(SCN1A):c.3260del (p.Gly1087fs) rs2105794716
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs) rs1696338792
NM_001165963.4(SCN1A):c.3305del (p.Tyr1102fs) rs1696333581
NM_001165963.4(SCN1A):c.3311dup (p.Phe1105fs) rs2105794174
NM_001165963.4(SCN1A):c.3327_3328del (p.Leu1111fs)
NM_001165963.4(SCN1A):c.3343_3344del (p.Val1115fs) rs1559193050
NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser)
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer) rs1131691693
NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs) rs1064796177
NM_001165963.4(SCN1A):c.3380T>G (p.Leu1127Ter) rs2105793395
NM_001165963.4(SCN1A):c.3395_3396del (p.Asp1131_Phe1132insTer) rs2105793178
NM_001165963.4(SCN1A):c.3403G>T (p.Glu1135Ter) rs2105793066
NM_001165963.4(SCN1A):c.3407C>A (p.Ser1136Ter) rs746718015
NM_001165963.4(SCN1A):c.3429+1G>A rs1574166948
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3429+2T>C
NM_001165963.4(SCN1A):c.3429+5G>A
NM_001165963.4(SCN1A):c.3430-1G>A
NM_001165963.4(SCN1A):c.3430-2A>G rs1693198997
NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) rs1553534296
NM_001165963.4(SCN1A):c.3438_3442del (p.Asn1146fs) rs2105630442
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3510dup (p.Pro1171fs)
NM_001165963.4(SCN1A):c.3517dup (p.Glu1173fs) rs1693176153
NM_001165963.4(SCN1A):c.3525_3526insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGAACCTGAAGAAACTCTT (p.Glu1176delinsPhePhePhePhePhePheXaaXaaXaaXaaTyrGluIleSerSerHisThrSerTer)
NM_001165963.4(SCN1A):c.3525dup (p.Glu1176Ter) rs2105628869
NM_001165963.4(SCN1A):c.3550+2T>C rs1574068971
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter) rs796052995
NM_001165963.4(SCN1A):c.3610del (p.Trp1204fs)
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.3614G>A (p.Trp1205Ter) rs2105610895
NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs) rs1060502182
NM_001165963.4(SCN1A):c.3633T>A (p.Cys1211Ter)
NM_001165963.4(SCN1A):c.3635_3636delinsA (p.Phe1212fs) rs1574060717
NM_001165963.4(SCN1A):c.3635del (p.Phe1212fs) rs2105610528
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3641T>A (p.Ile1214Lys)
NM_001165963.4(SCN1A):c.3649_3650insTT (p.His1217fs) rs2105610260
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter) rs1692870117
NM_001165963.4(SCN1A):c.3660T>G (p.Phe1220Leu) rs2105610047
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3689T>C (p.Leu1230Pro) rs1574060250
NM_001165963.4(SCN1A):c.3696T>G (p.Ser1232Arg)
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg) rs121917911
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3705+1G>C
NM_001165963.4(SCN1A):c.3705+1G>T rs794726744
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3706-1G>C rs1692586014
NM_001165963.4(SCN1A):c.3706-2A>G
NM_001165963.4(SCN1A):c.3706-2A>T rs1692586274
NM_001165963.4(SCN1A):c.3712G>T (p.Glu1238Ter) rs750364705
NM_001165963.4(SCN1A):c.3715_3721dup (p.Tyr1241Ter) rs2105593982
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del) rs1574052546
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs) rs796053072
NM_001165963.4(SCN1A):c.3726del (p.Ile1242fs) rs1692577292
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter) rs1240187329
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter) rs1043031572
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.3803T>G (p.Leu1268Arg) rs2105592653
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr) rs121918626
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) rs1553531217
NM_001165963.4(SCN1A):c.3836_3837del (p.Tyr1279fs)
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter) rs1559144583
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro) rs121918740
NM_001165963.4(SCN1A):c.3862G>A (p.Asp1288Asn) rs1553531134
NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del) rs2105591602
NM_001165963.4(SCN1A):c.3867del (p.Phe1289_Leu1290insTer)
NM_001165963.4(SCN1A):c.3869T>A (p.Leu1290Ter) rs2105591567
NM_001165963.4(SCN1A):c.3874G>C (p.Val1292Leu) rs2105591537
NM_001165963.4(SCN1A):c.3879+1G>A
NM_001165963.4(SCN1A):c.3879+5G>C
NM_001165963.4(SCN1A):c.3880-1G>A
NM_001165963.4(SCN1A):c.3880-1G>T rs1559140855
NM_001165963.4(SCN1A):c.3880-2A>G rs794726816
NM_001165963.4(SCN1A):c.3884C>G (p.Ser1295Ter) rs2105571577
NM_001165963.4(SCN1A):c.3905dup (p.Asn1302fs) rs2105571117
NM_001165963.4(SCN1A):c.3920C>G (p.Ser1307Ter)
NM_001165963.4(SCN1A):c.3926T>A (p.Leu1309His) rs1553529527
NM_001165963.4(SCN1A):c.3929G>A (p.Gly1310Glu) rs1574039742
NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal) rs1064795733
NM_001165963.4(SCN1A):c.3937A>T (p.Lys1313Ter)
NM_001165963.4(SCN1A):c.3942del (p.Leu1315fs) rs2105570349
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs) rs1692166604
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del) rs1553529461
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr) rs2105569996
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.3971T>C (p.Leu1324Pro)
NM_001165963.4(SCN1A):c.3971dup (p.Arg1325fs) rs1559140306
NM_001165963.4(SCN1A):c.3973A>T (p.Arg1325Ter)
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp) rs2105569724
NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.3986G>C (p.Arg1329Pro)
NM_001165963.4(SCN1A):c.3986G>T (p.Arg1329Leu)
NM_001165963.4(SCN1A):c.3996del (p.Gly1332_Met1333insTer) rs2105569513
NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) rs1553529426
NM_001165963.4(SCN1A):c.4002+1953_4221del
NM_001165963.4(SCN1A):c.4002+2361C>G
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_001165963.4(SCN1A):c.4002+2T>C rs1559140110
NM_001165963.4(SCN1A):c.4003-11_4036del rs1559128532
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4013_4015dup (p.Asn1338_Ala1339insAsp) rs1691093633
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp) rs794726789
NM_001165963.4(SCN1A):c.4017_4018dup (p.Leu1340fs) rs2105510576
NM_001165963.4(SCN1A):c.4028del (p.Ala1343fs) rs1691088488
NM_001165963.4(SCN1A):c.4046A>C (p.Asn1349Thr)
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu) rs1574006637
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.4072T>C (p.Trp1358Arg)
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter) rs121917961
NM_001165963.4(SCN1A):c.4073G>T (p.Trp1358Leu) rs121917961
NM_001165963.4(SCN1A):c.4083C>A (p.Phe1361Leu) rs2105509873
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) rs794726779
NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) rs1553525210
NM_001165963.4(SCN1A):c.4127G>A (p.Cys1376Tyr) rs2105509347
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr) rs1131691775
NM_001165963.4(SCN1A):c.4133_4134insATAA (p.Asn1378delinsLysTer)
NM_001165963.4(SCN1A):c.4144_4153del (p.Gly1382fs)
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4168G>T (p.Val1390Leu)
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.4181C>T (p.Thr1394Ile)
NM_001165963.4(SCN1A):c.4181_4182del (p.Thr1394fs) rs1691052813
NM_001165963.4(SCN1A):c.4184_4187dup (p.Cys1396Ter) rs2105508605
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly) rs121917987
NM_001165963.4(SCN1A):c.4196T>C (p.Leu1399Pro)
NM_001165963.4(SCN1A):c.4204del (p.Arg1402fs) rs2105508454
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs) rs1691048388
NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr) 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>T (p.Lys1412Ter) rs1553524977
NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer) rs1060502183
NM_001165963.4(SCN1A):c.4244T>C (p.Phe1415Ser) rs1691039670
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) rs794726705
NM_001165963.4(SCN1A):c.4247A>G (p.Asp1416Gly) rs2105507958
NM_001165963.4(SCN1A):c.4260del (p.Phe1420fs)
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.4269_4272del (p.Ser1424fs) rs1574004452
NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) rs878854263
NM_001165963.4(SCN1A):c.4283T>A (p.Val1428Asp) rs121918627
NM_001165963.4(SCN1A):c.4284+1G>T rs1553524865
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr) rs796053008
NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu) rs1553523204
NM_001165963.4(SCN1A):c.4295A>T (p.Lys1432Ile) rs1690583220
NM_001165963.4(SCN1A):c.4297G>C (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.4313T>C (p.Met1438Thr) rs796053010
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.4322C>T (p.Ala1441Val) rs2105486615
NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter) rs1553523142
NM_001165963.4(SCN1A):c.4338+1G>A
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.4338+5G>T
NM_001165963.4(SCN1A):c.4339-1G>A rs1553522517
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) rs794726696
NM_001165963.4(SCN1A):c.4351C>G (p.Pro1451Ala) rs794726696
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4358A>G (p.Tyr1453Cys) rs1690345764
NM_001165963.4(SCN1A):c.4359T>G (p.Tyr1453Ter) rs1573984787
NM_001165963.4(SCN1A):c.4360G>A (p.Glu1454Lys) rs1553522472
NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys) rs1131691600
NM_001165963.4(SCN1A):c.4371_4372insGAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTCTG (p.Leu1457_Tyr1458insGluGluAsnArgPheAsnLeuGlyGlyArgGlyCysSerGluProArgLeuHisHisCysThrProProArgXaaXaaXaaXaaLysLysLysLysLysLysLysGluSerLeu) rs2105476619
NM_001165963.4(SCN1A):c.4372del (p.Tyr1458fs) rs1690342079
NM_001165963.4(SCN1A):c.4374C>A (p.Tyr1458Ter)
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His) rs1559119345
NM_001165963.4(SCN1A):c.4393dup (p.Ile1465fs)
NM_001165963.4(SCN1A):c.4396T>G (p.Phe1466Val)
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.4(SCN1A):c.4427A>G (p.Asn1476Ser) rs2105476040
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val) rs121917996
NM_001165963.4(SCN1A):c.4441_4442del (p.Val1481fs) rs2105475874
NM_001165963.4(SCN1A):c.4444dup (p.Ile1482fs) rs1573984004
NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp) rs1553522331
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) rs1553522321
NM_001165963.4(SCN1A):c.4473del (p.Lys1492fs) rs2105475598
NM_001165963.4(SCN1A):c.4474A>T (p.Lys1492Ter)
NM_001165963.4(SCN1A):c.4476+1A>C
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4476+2T>C
NM_001165963.4(SCN1A):c.4476+5G>A rs1553522266
NM_001165963.4(SCN1A):c.4476_4476+2del
NM_001165963.4(SCN1A):c.4477-1C>T rs1553521567
NM_001165963.4(SCN1A):c.4477-2A>G rs863225036
NM_001165963.4(SCN1A):c.4477-3T>C rs1690013843
NM_001165963.4(SCN1A):c.4490del (p.Asp1497fs) rs1690011364
NM_001165963.4(SCN1A):c.4501_4502insGAGAAGAA (p.Thr1501fs)
NM_001165963.4(SCN1A):c.4507G>A (p.Glu1503Lys)
NM_001165963.4(SCN1A):c.4510C>A (p.Gln1504Lys) rs1553521530
NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His) rs1559114837
NM_001165963.4(SCN1A):c.4515_4516del (p.Lys1506fs) rs2105462303
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) rs796053019
NM_001165963.4(SCN1A):c.4531del (p.Ala1510_Met1511insTer) rs1690001575
NM_001165963.4(SCN1A):c.4537A>T (p.Lys1513Ter)
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) rs1573973548
NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter) rs121918764
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg) rs796053020
NM_001165963.4(SCN1A):c.4543G>C (p.Gly1515Arg) rs796053020
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) rs794726825
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser) rs796053021
NM_001165963.4(SCN1A):c.4557del (p.Gln1520fs)
NM_001165963.4(SCN1A):c.4565del (p.Pro1522fs) rs1689992185
NM_001165963.4(SCN1A):c.4571del (p.Pro1524fs) rs1689990205
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4573_4581del (p.Arg1525_Gly1527del)
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg) rs796053022
NM_001165963.4(SCN1A):c.4581+1G>A rs1689986058
NM_001165963.4(SCN1A):c.4581+2del rs1689985819
NM_001165963.4(SCN1A):c.4581+5G>C rs1559114303
NM_001165963.4(SCN1A):c.4582-1G>C rs2105449923
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys) rs398123597
NM_001165963.4(SCN1A):c.4594G>T (p.Gly1532Ter)
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
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.4656T>A (p.Cys1552Ter) rs1553521051
NM_001165963.4(SCN1A):c.4676T>G (p.Met1559Arg) rs1689707865
NM_001165963.4(SCN1A):c.4688_4692del (p.Asp1563fs) rs1559110846
NM_001165963.4(SCN1A):c.4693C>T (p.Gln1565Ter) rs1386425283
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.4763G>A (p.Cys1588Tyr) rs1553520982
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
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.4795T>G (p.Tyr1599Asp) rs1689679432
NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter) rs761333438
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) rs794726800
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4833dup (p.Val1612fs)
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr) rs2105447247
NM_001165963.4(SCN1A):c.4852+1G>A rs1573962555
NM_001165963.4(SCN1A):c.4852+1G>T rs1573962555
NM_001165963.4(SCN1A):c.4852+2T>C
NM_001165963.4(SCN1A):c.4852+5G>C
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4854_4855insTA (p.Met1619Ter)
NM_001165963.4(SCN1A):c.4855_4858dup (p.Phe1620fs)
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4875_4918dup (p.Leu1640delinsGlnLysSerIleSerCysProLeuProCysSerGluTer) rs2105434895
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_001165963.4(SCN1A):c.4888G>C (p.Val1630Leu)
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.4915del (p.Arg1639fs)
NM_001165963.4(SCN1A):c.4921G>A (p.Ala1641Thr) rs2105434822
NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met) rs1573952908
NM_001165963.4(SCN1A):c.4926G>C (p.Arg1642Ser) rs1131691581
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.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr) rs1553520446
NM_001165963.4(SCN1A):c.4958C>T (p.Ala1653Val)
NM_001165963.4(SCN1A):c.4964_4965del (p.Gly1655fs) rs1573952473
NM_001165963.4(SCN1A):c.4966_4969dup (p.Arg1657fs) rs2105434276
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met) rs121917955
NM_001165963.4(SCN1A):c.4969del (p.Arg1657fs) rs1689347935
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4973C>A (p.Thr1658Lys) rs121917922
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.4979T>C (p.Leu1660Pro) rs1131691675
NM_001165963.4(SCN1A):c.4980_4981del (p.Phe1661fs) rs1559105301
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro) rs1131691774
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.5013dup (p.Asn1672Ter)
NM_001165963.4(SCN1A):c.5016del (p.Asn1672fs) rs2105433569
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser) rs121918792
NM_001165963.4(SCN1A):c.5029C>T (p.Leu1677Phe) rs2105433326
NM_001165963.4(SCN1A):c.5035del (p.Phe1678_Leu1679insTer)
NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp) rs1553520380
NM_001165963.4(SCN1A):c.5045del (p.Phe1682fs) rs2105433161
NM_001165963.4(SCN1A):c.5048T>C (p.Ile1683Thr) rs2105433108
NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys) rs1689321394
NM_001165963.4(SCN1A):c.5052C>A (p.Tyr1684Ter) rs1433806086
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val) rs121918744
NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg) rs2105432939
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) rs121918777
NM_001165963.4(SCN1A):c.5108del (p.Asp1703fs) rs1689300152
NM_001165963.4(SCN1A):c.5122G>A (p.Glu1708Lys)
NM_001165963.4(SCN1A):c.5138G>T (p.Ser1713Ile) rs121918816
NM_001165963.4(SCN1A):c.5150T>G (p.Leu1717Arg)
NM_001165963.4(SCN1A):c.5157A>C (p.Gln1719His) rs1689285717
NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro) rs1553520320
NM_001165963.4(SCN1A):c.5170G>A (p.Ala1724Thr)
NM_001165963.4(SCN1A):c.5171C>T (p.Ala1724Val) rs1553520319
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
NM_001165963.4(SCN1A):c.5179G>C (p.Asp1727His) rs1689278461
NM_001165963.4(SCN1A):c.5182G>C (p.Gly1728Arg)
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs) rs1553520298
NM_001165963.4(SCN1A):c.5183G>A (p.Gly1728Glu) rs2105431330
NM_001165963.4(SCN1A):c.5195C>T (p.Pro1732Leu) rs2105431242
NM_001165963.4(SCN1A):c.5198_5201dup (p.Asn1735fs) rs2105431162
NM_001165963.4(SCN1A):c.5209_5210del (p.Lys1737fs) rs2105431024
NM_001165963.4(SCN1A):c.5212_5213del (p.Pro1738fs) rs1689272728
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.5222G>C (p.Cys1741Ser) rs794726763
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg) rs1057518258
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5261G>C (p.Gly1754Ala)
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>A (p.Gly1757Arg) rs1553520227
NM_001165963.4(SCN1A):c.5269G>C (p.Gly1757Arg) rs1553520227
NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu) rs1085307930
NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs) rs796053085
NM_001165963.4(SCN1A):c.5281_5282del (p.Val1761fs)
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu) rs1689251604
NM_001165963.4(SCN1A):c.5296_5298del (p.Phe1766del) rs794726832
NM_001165963.4(SCN1A):c.5302A>G (p.Ser1768Gly) rs2105429627
NM_001165963.4(SCN1A):c.5309T>A (p.Ile1770Asn)
NM_001165963.4(SCN1A):c.5312T>G (p.Ile1771Ser) rs1253117981
NM_001165963.4(SCN1A):c.5315_5316insC (p.Ser1773fs) rs2105429444
NM_001165963.4(SCN1A):c.5317T>C (p.Ser1773Pro)
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.5321T>C (p.Phe1774Ser)
NM_001165963.4(SCN1A):c.5322C>A (p.Phe1774Leu)
NM_001165963.4(SCN1A):c.5323del (p.Leu1775fs)
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr) rs121917952
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His) rs1689242255
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.5371_5372del (p.Val1791fs) rs2105428710
NM_001165963.4(SCN1A):c.5374G>A (p.Ala1792Thr) rs2105428686
NM_001165963.4(SCN1A):c.5379del (p.Glu1794fs) rs2105428629
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.5383G>T (p.Glu1795Ter) rs121918813
NM_001165963.4(SCN1A):c.5399T>G (p.Leu1800Arg) rs2105428344
NM_001165963.4(SCN1A):c.5399del (p.Leu1800fs) rs1573946994
NM_001165963.4(SCN1A):c.5426del (p.Tyr1809fs) rs1689218857
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
NM_001165963.4(SCN1A):c.5444T>C (p.Phe1815Ser) rs1689211569
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter) rs1553520105
NM_001165963.4(SCN1A):c.5481del (p.Lys1827fs)
NM_001165963.4(SCN1A):c.5485_5489del (p.Ser1829fs)
NM_001165963.4(SCN1A):c.5488_5489del (p.Gln1830fs) rs1689200375
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs) rs1573945872
NM_001165963.4(SCN1A):c.5495_5496insT (p.Ala1833fs) rs1559101585
NM_001165963.4(SCN1A):c.5503C>T (p.Leu1835Phe)
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter) rs1064795579
NM_001165963.4(SCN1A):c.5513C>T (p.Pro1838Leu)
NM_001165963.4(SCN1A):c.5527C>T (p.Gln1843Ter) rs1553520078
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5542C>T (p.Gln1848Ter) rs2105426467
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001165963.4(SCN1A):c.5561dup (p.Leu1854fs) rs2105426198
NM_001165963.4(SCN1A):c.5567T>G (p.Met1856Arg)
NM_001165963.4(SCN1A):c.5569del (p.Met1856_Val1857insTer)
NM_001165963.4(SCN1A):c.5576del (p.Gly1859fs) rs2105425898
NM_001165963.4(SCN1A):c.5594_5595dup (p.Asp1866fs) rs2105425687
NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr) rs1131691773
NM_001165963.4(SCN1A):c.5613del (p.Phe1871fs)
NM_001165963.4(SCN1A):c.5636del (p.Ser1879fs) rs2105425094
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5662_5663del (p.Gln1888fs) rs2105424748
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5697del (p.Lys1900fs) rs1689156608
NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs) rs796053086
NM_001165963.4(SCN1A):c.5709T>A (p.Tyr1903Ter)
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter) rs796053103
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del) rs1553519902
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5734C>G (p.Arg1912Gly)
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe) rs796053048
NM_001165963.4(SCN1A):c.5754del (p.Ala1919fs) rs1553519872
NM_001165963.4(SCN1A):c.5757_5770del (p.Val1920fs)
NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser) rs121917981
NM_001165963.4(SCN1A):c.5767C>T (p.Gln1923Ter)
NM_001165963.4(SCN1A):c.5769G>T (p.Gln1923His) rs2105423415

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