ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for not provided

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Gene type:
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Total variants: 330
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HGVS dbSNP
NM_006920.5(SCN1A):c.3627delT (p.Phe1209Leufs) rs1553532582
NM_006920.5(SCN1A):c.4873delC (p.Arg1625Glufs) rs1553520483
NM_006920.6(SCN1A):c.3060T>A (p.Tyr1020Ter) rs1553540382
NM_006920.6(SCN1A):c.3065T>C (p.Phe1022Ser) rs796052992
NM_006920.6(SCN1A):c.3085A>C (p.Arg1029=) rs370793418
NM_006920.6(SCN1A):c.3087G>T (p.Arg1029Ser) rs1373733895
NM_006920.6(SCN1A):c.3088A>G (p.Lys1030Glu) rs376649518
NM_006920.6(SCN1A):c.3095A>T (p.Lys1032Met) rs1553540334
NM_006920.6(SCN1A):c.3143A>T (p.Asp1048Val) rs779306054
NM_006920.6(SCN1A):c.3162_3163del (p.Thr1055fs) rs1553540282
NM_006920.6(SCN1A):c.3235dup (p.Ser1079fs) rs796053070
NM_006920.6(SCN1A):c.3262G>T (p.Glu1088Ter) rs1553540207
NM_006920.6(SCN1A):c.3314C>A (p.Pro1105Gln) rs1553540184
NM_006920.6(SCN1A):c.3322G>A (p.Val1108Ile) rs774410570
NM_006920.6(SCN1A):c.3328G>T (p.Glu1110Ter) rs796052993
NM_006920.6(SCN1A):c.3338_3339del (p.Asp1112_Phe1113insTer) rs1131691693
NM_006920.6(SCN1A):c.3344dup (p.Asn1115fs) rs1064796177
NM_006920.6(SCN1A):c.3354G>A (p.Thr1118=) rs375953445
NM_006920.6(SCN1A):c.3372A>G (p.Glu1124=) rs796052954
NM_006920.6(SCN1A):c.3376del (p.Asp1126fs) rs796053071
NM_006920.6(SCN1A):c.3392_3393del (p.Lys1131fs) rs886039529
NM_006920.6(SCN1A):c.3393A>G (p.Lys1131=) rs753202524
NM_006920.6(SCN1A):c.3396+212T>C
NM_006920.6(SCN1A):c.3396+216C>G
NM_006920.6(SCN1A):c.3396G>A (p.Glu1132=) rs796052994
NM_006920.6(SCN1A):c.3415_3418del (p.Ser1139fs) rs1064794495
NM_006920.6(SCN1A):c.3424G>T (p.Glu1142Ter) rs1553534233
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
NM_006920.6(SCN1A):c.3463C>T (p.Gln1155Ter) rs368609628
NM_006920.6(SCN1A):c.3469G>A (p.Val1157Ile) rs146374754
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3517+212G>T
NM_006920.6(SCN1A):c.3518-246C>G
NM_006920.6(SCN1A):c.3520T>C (p.Cys1174Arg) rs1553532782
NM_006920.6(SCN1A):c.3520del (p.Cys1174fs) rs796053068
NM_006920.6(SCN1A):c.3523G>T (p.Val1175Leu) rs780607306
NM_006920.6(SCN1A):c.3552T>C (p.Asn1184=) rs138181528
NM_006920.6(SCN1A):c.3558A>G (p.Glu1186=) rs371596040
NM_006920.6(SCN1A):c.3574C>T (p.Gln1192Ter) rs796052995
NM_006920.6(SCN1A):c.3585C>A (p.Asn1195Lys) rs762734890
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3613G>A (p.Glu1205Lys) rs398123590
NM_006920.6(SCN1A):c.3617A>G (p.His1206Arg) rs796052996
NM_006920.6(SCN1A):c.3650T>G (p.Ile1217Ser) rs796052997
NM_006920.6(SCN1A):c.3660T>C (p.Ser1220=) rs121918746
NM_006920.6(SCN1A):c.3665G>A (p.Gly1222Asp) rs1553532470
NM_006920.6(SCN1A):c.3672+12T>G rs147032678
NM_006920.6(SCN1A):c.3673-146C>G
NM_006920.6(SCN1A):c.3677T>C (p.Phe1226Ser) rs1553531410
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3683_3684AT[6] (p.Asp1232fs) rs796053072
NM_006920.6(SCN1A):c.3699G>A (p.Gln1233=) rs369688121
NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) rs727504136
NM_006920.6(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.6(SCN1A):c.3716C>T (p.Thr1239Met) rs140731963
NM_006920.6(SCN1A):c.3739G>A (p.Val1247Ile) rs796052998
NM_006920.6(SCN1A):c.3743T>C (p.Phe1248Ser) rs398123591
NM_006920.6(SCN1A):c.3743dup (p.Thr1249fs) rs796053073
NM_006920.6(SCN1A):c.3767T>C (p.Met1256Thr) rs1064795355
NM_006920.6(SCN1A):c.3777A>C (p.Lys1259Asn) rs727504135
NM_006920.6(SCN1A):c.3784G>C (p.Ala1262Pro) rs398123592
NM_006920.6(SCN1A):c.3785C>T (p.Ala1262Val) rs794726841
NM_006920.6(SCN1A):c.3788A>G (p.Tyr1263Cys)
NM_006920.6(SCN1A):c.3791G>A (p.Gly1264Asp) rs796053000
NM_006920.6(SCN1A):c.3817T>C (p.Trp1273Arg) rs796053001
NM_006920.6(SCN1A):c.3819G>A (p.Trp1273Ter) rs1553531178
NM_006920.6(SCN1A):c.3820dup (p.Cys1274fs) rs796053074
NM_006920.6(SCN1A):c.3824G>A (p.Trp1275Ter) rs886039705
NM_006920.6(SCN1A):c.3829G>C (p.Asp1277His) rs1553531134
NM_006920.6(SCN1A):c.3833T>C (p.Phe1278Ser) rs794727224
NM_006920.6(SCN1A):c.3844del (p.Asp1282fs) rs886041562
NM_006920.6(SCN1A):c.3846+5G>A rs796052999
NM_006920.6(SCN1A):c.3847-338T>C
NM_006920.6(SCN1A):c.3854T>C (p.Leu1285Ser) rs1553529633
NM_006920.6(SCN1A):c.3855G>T (p.Leu1285Phe) rs998325208
NM_006920.6(SCN1A):c.3865del (p.Thr1289fs) rs1057518229
NM_006920.6(SCN1A):c.3866C>T (p.Thr1289Ile) rs146878122
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.3893T>G (p.Leu1298Arg) rs1553529527
NM_006920.6(SCN1A):c.3896_3937del (p.Gly1299_Leu1313delinsVal) rs1064795733
NM_006920.6(SCN1A):c.3905A>C (p.Lys1302Thr) rs1064795239
NM_006920.6(SCN1A):c.3919_3942del (p.Leu1307_Arg1314del) rs1553529461
NM_006920.6(SCN1A):c.3920_3923del (p.Leu1307fs) rs1064796964
NM_006920.6(SCN1A):c.3933_3943del (p.Arg1311fs) rs796053107
NM_006920.6(SCN1A):c.3935C>A (p.Pro1312His) rs1057521746
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.3970-320_3970-319insAAAC
NM_006920.6(SCN1A):c.3973G>A (p.Val1325Ile) rs796053005
NM_006920.6(SCN1A):c.3977T>G (p.Val1326Gly) rs794727338
NM_006920.6(SCN1A):c.3983C>A (p.Ala1328Asp) rs794726789
NM_006920.6(SCN1A):c.3994G>C (p.Ala1332Pro) rs796053006
NM_006920.6(SCN1A):c.4011G>C (p.Met1337Ile) rs794726822
NM_006920.6(SCN1A):c.4027T>C (p.Cys1343Arg) rs1131691461
NM_006920.6(SCN1A):c.4028G>C (p.Cys1343Ser) rs1057521537
NM_006920.6(SCN1A):c.4062C>T (p.Gly1354=)
NM_006920.6(SCN1A):c.4063G>T (p.Val1355Leu) rs121918805
NM_006920.6(SCN1A):c.4078G>C (p.Gly1360Arg) rs1064795303
NM_006920.6(SCN1A):c.4096A>G (p.Ile1366Val) rs762317674
NM_006920.6(SCN1A):c.4100A>C (p.Asn1367Thr) rs1131691775
NM_006920.6(SCN1A):c.4108del (p.Thr1370fs) rs1553525146
NM_006920.6(SCN1A):c.4125_4130delinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1375_Glu1377delinsGluTer) rs886039712
NM_006920.6(SCN1A):c.4127del (p.Ile1376fs) rs1064796714
NM_006920.6(SCN1A):c.4129G>A (p.Glu1377Lys) rs775820803
NM_006920.6(SCN1A):c.4133del (p.Asp1378fs) rs796053077
NM_006920.6(SCN1A):c.4134C>T (p.Asp1378=) rs376118833
NM_006920.6(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.6(SCN1A):c.4138A>C (p.Asn1380His) rs1295072436
NM_006920.6(SCN1A):c.4139A>G (p.Asn1380Ser) rs1553525062
NM_006920.6(SCN1A):c.4159A>T (p.Lys1387Ter) rs1553525023
NM_006920.6(SCN1A):c.4183dup (p.Ala1395fs) rs796053078
NM_006920.6(SCN1A):c.4186C>T (p.Arg1396Ter) rs398123593
NM_006920.6(SCN1A):c.4191G>A (p.Trp1397Ter) rs794727337
NM_006920.6(SCN1A):c.4209C>G (p.Asn1403Lys) rs398123594
NM_006920.6(SCN1A):c.4222G>T (p.Gly1408Ter) rs1085307893
NM_006920.6(SCN1A):c.4229G>A (p.Gly1410Glu) rs1064795756
NM_006920.6(SCN1A):c.4247A>T (p.Gln1416Leu) rs1057518062
NM_006920.6(SCN1A):c.4251+2T>C rs398123595
NM_006920.6(SCN1A):c.4251+5G>A rs1064797264
NM_006920.6(SCN1A):c.4251+7G>A rs745918943
NM_006920.6(SCN1A):c.4252-4A>G rs796053007
NM_006920.6(SCN1A):c.4252G>A (p.Ala1418Thr) rs796053008
NM_006920.6(SCN1A):c.4264G>C (p.Gly1422Arg) rs121917908
NM_006920.6(SCN1A):c.4265G>A (p.Gly1422Glu) rs121918741
NM_006920.6(SCN1A):c.4271T>A (p.Met1424Lys) rs796053009
NM_006920.6(SCN1A):c.4285del (p.Ala1429fs) rs796053079
NM_006920.6(SCN1A):c.4288G>A (p.Ala1430Thr) rs121917974
NM_006920.6(SCN1A):c.4305+1G>T rs1553523138
NM_006920.6(SCN1A):c.4305+5G>A rs796053011
NM_006920.6(SCN1A):c.4306-5G>A rs1057522587
NM_006920.6(SCN1A):c.4308G>A (p.Val1436=) rs1478635537
NM_006920.6(SCN1A):c.4312C>T (p.Leu1438Phe) rs768638174
NM_006920.6(SCN1A):c.4330G>A (p.Glu1444Lys) rs1131691600
NM_006920.6(SCN1A):c.4336C>G (p.Leu1446Val) rs796053013
NM_006920.6(SCN1A):c.4356T>A (p.Phe1452Leu) rs794727375
NM_006920.6(SCN1A):c.4356T>C (p.Phe1452=) rs794727375
NM_006920.6(SCN1A):c.4374T>A (p.Phe1458Leu) rs794727376
NM_006920.6(SCN1A):c.4379C>A (p.Ser1460Tyr) rs794726809
NM_006920.6(SCN1A):c.4405G>T (p.Gly1469Cys) rs796053015
NM_006920.6(SCN1A):c.4408G>A (p.Val1470Ile) rs1085307484
NM_006920.6(SCN1A):c.4413C>G (p.Ile1471Met) rs398123596
NM_006920.6(SCN1A):c.4413C>T (p.Ile1471=) rs398123596
NM_006920.6(SCN1A):c.4443+1A>G rs796053014
NM_006920.6(SCN1A):c.4443+1A>T rs796053014
NM_006920.6(SCN1A):c.4443G>A (p.Lys1481=) rs1085307730
NM_006920.6(SCN1A):c.4444-338T>A
NM_006920.6(SCN1A):c.4460T>A (p.Ile1487Asn) rs796053017
NM_006920.6(SCN1A):c.4471G>T (p.Glu1491Ter) rs1553521538
NM_006920.6(SCN1A):c.4478A>T (p.Gln1493Leu) rs796053018
NM_006920.6(SCN1A):c.4496C>T (p.Ala1499Val) rs796053019
NM_006920.6(SCN1A):c.4499T>G (p.Met1500Arg) rs1553521507
NM_006920.6(SCN1A):c.4510G>A (p.Gly1504Arg) rs796053020
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715
NM_006920.6(SCN1A):c.4515del (p.Lys1507fs) rs796053081
NM_006920.6(SCN1A):c.4516A>T (p.Lys1506Ter) rs794726835
NM_006920.6(SCN1A):c.4521dup (p.Pro1508fs) rs794726825
NM_006920.6(SCN1A):c.4522C>A (p.Pro1508Thr) rs796053021
NM_006920.6(SCN1A):c.4523C>T (p.Pro1508Leu) rs372425457
NM_006920.6(SCN1A):c.4529del (p.Lys1510fs) rs1064796343
NM_006920.6(SCN1A):c.4540C>T (p.Arg1514Ter) rs794726752
NM_006920.6(SCN1A):c.4544C>G (p.Pro1515Arg) rs796053022
NM_006920.6(SCN1A):c.4548+124C>G
NM_006920.6(SCN1A):c.4548+2T>A rs886039457
NM_006920.6(SCN1A):c.4548+2T>C rs886039457
NM_006920.6(SCN1A):c.4549-110C>T
NM_006920.6(SCN1A):c.4549-27G>A
NM_006920.6(SCN1A):c.4549-3C>T rs747649993
NM_006920.6(SCN1A):c.4549A>G (p.Asn1517Asp) rs794727398
NM_006920.6(SCN1A):c.4551C>A (p.Asn1517Lys) rs398123597
NM_006920.6(SCN1A):c.4577dup (p.Val1527fs) rs886041982
NM_006920.6(SCN1A):c.4579G>A (p.Val1527Ile) rs780360360
NM_006920.6(SCN1A):c.4595T>C (p.Phe1532Ser) rs121917992
NM_006920.6(SCN1A):c.4597G>C (p.Asp1533His) rs1131691367
NM_006920.6(SCN1A):c.4618A>T (p.Ile1540Phe) rs1553521053
NM_006920.6(SCN1A):c.4634T>A (p.Val1545Asp) rs398123598
NM_006920.6(SCN1A):c.4641G>A (p.Met1547Ile) rs796053023
NM_006920.6(SCN1A):c.4648G>T (p.Glu1550Ter) rs796053024
NM_006920.6(SCN1A):c.4668A>G (p.Glu1556=) rs796053025
NM_006920.6(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.6(SCN1A):c.4691G>A (p.Arg1564His) rs368834365
NM_006920.6(SCN1A):c.4711G>C (p.Val1571Leu) rs779090130
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.4732G>T (p.Val1578Leu) rs796053027
NM_006920.6(SCN1A):c.4744_4745del (p.Ile1582fs) rs796053080
NM_006920.6(SCN1A):c.4753C>T (p.Arg1585Cys) rs121917993
NM_006920.6(SCN1A):c.4754G>A (p.Arg1585His) rs575368466
NM_006920.6(SCN1A):c.4760A>T (p.Tyr1587Phe) rs377325221
NM_006920.6(SCN1A):c.4761T>G (p.Tyr1587Ter) rs796053026
NM_006920.6(SCN1A):c.4779del (p.Gly1592_Trp1593insTer) rs886043532
NM_006920.6(SCN1A):c.4788del (p.Phe1596fs) rs796053083
NM_006920.6(SCN1A):c.4820-1G>C rs1553520530
NM_006920.6(SCN1A):c.4820-223dup
NM_006920.6(SCN1A):c.4820-271T>C
NM_006920.6(SCN1A):c.4826T>C (p.Phe1609Ser) rs1317010570
NM_006920.6(SCN1A):c.4839G>A (p.Leu1613=) rs142910512
NM_006920.6(SCN1A):c.4854C>T (p.Phe1618=) rs587780445
NM_006920.6(SCN1A):c.4863dup (p.Thr1622fs) rs796053084
NM_006920.6(SCN1A):c.4872C>T (p.Phe1624=) rs774858072
NM_006920.6(SCN1A):c.4873C>T (p.Arg1625Ter) rs199727342
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.4877T>A (p.Val1626Glu) rs121918810
NM_006920.6(SCN1A):c.4880T>A (p.Ile1627Asn) rs1057521079
NM_006920.6(SCN1A):c.4883G>C (p.Arg1628Pro) rs796053029
NM_006920.6(SCN1A):c.4893G>T (p.Arg1631Ser) rs1131691581
NM_006920.6(SCN1A):c.4898G>A (p.Gly1633Asp) rs796053030
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4910G>A (p.Arg1637His) rs121918622
NM_006920.6(SCN1A):c.4910G>T (p.Arg1637Leu) rs121918622
NM_006920.6(SCN1A):c.4919A>C (p.Lys1640Thr) rs1553520446
NM_006920.6(SCN1A):c.4921G>T (p.Gly1641Ter) rs1553520442
NM_006920.6(SCN1A):c.4939A>C (p.Thr1647Pro) rs1064794766
NM_006920.6(SCN1A):c.4946T>C (p.Leu1649Pro) rs1131691675
NM_006920.6(SCN1A):c.4962G>A (p.Met1654Ile) rs796053031
NM_006920.6(SCN1A):c.4966C>T (p.Leu1656Phe) rs796053032
NM_006920.6(SCN1A):c.4967T>C (p.Leu1656Pro) rs1131691774
NM_006920.6(SCN1A):c.4977_4980del (p.Phe1660fs) rs794726754
NM_006920.6(SCN1A):c.4985_4986delinsAG (p.Ile1662Lys) rs1553520404
NM_006920.6(SCN1A):c.4987_4992del (p.Gly1663_Leu1664del) rs797044982
NM_006920.6(SCN1A):c.5020G>C (p.Ala1674Pro) rs760249153
NM_006920.6(SCN1A):c.5020G>T (p.Ala1674Ser) rs760249153
NM_006920.6(SCN1A):c.5071G>T (p.Asp1691Tyr) rs748333147
NM_006920.6(SCN1A):c.5084A>C (p.Asn1695Thr) rs1553520340
NM_006920.6(SCN1A):c.5088T>A (p.Phe1696Leu) rs796053033
NM_006920.6(SCN1A):c.5088T>G (p.Phe1696Leu) rs796053033
NM_006920.6(SCN1A):c.5098G>A (p.Gly1700Ser) rs796053098
NM_006920.6(SCN1A):c.5108T>C (p.Met1703Thr) rs121917949
NM_006920.6(SCN1A):c.5113T>C (p.Cys1705Arg) rs121917926
NM_006920.6(SCN1A):c.5120T>C (p.Phe1707Ser) rs1131691793
NM_006920.6(SCN1A):c.5129C>A (p.Thr1710Lys) rs121917978
NM_006920.6(SCN1A):c.5131A>G (p.Thr1711Ala) rs1553520321
NM_006920.6(SCN1A):c.5135C>T (p.Ser1712Phe) rs796053099
NM_006920.6(SCN1A):c.5149_5165del (p.Gly1717fs) rs1553520298
NM_006920.6(SCN1A):c.5156T>C (p.Leu1719Pro) rs796053100
NM_006920.6(SCN1A):c.5181A>T (p.Pro1727=) rs1553520290
NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) rs149315236
NM_006920.6(SCN1A):c.5185G>A (p.Asp1729Asn) rs796053035
NM_006920.6(SCN1A):c.5189G>A (p.Cys1730Tyr) rs794726763
NM_006920.6(SCN1A):c.5212G>A (p.Gly1738Arg) rs1057518258
NM_006920.6(SCN1A):c.5228G>T (p.Gly1743Val) rs796053036
NM_006920.6(SCN1A):c.5237G>A (p.Gly1746Glu) rs1085307930
NM_006920.6(SCN1A):c.5240_5244del (p.Asn1747fs) rs796053085
NM_006920.6(SCN1A):c.5242C>T (p.Pro1748Ser) rs1064794630
NM_006920.6(SCN1A):c.5249T>C (p.Val1750Ala) rs1057518252
NM_006920.6(SCN1A):c.5258T>A (p.Phe1753Tyr) rs796053037
NM_006920.6(SCN1A):c.5261T>G (p.Phe1754Cys) rs1553520199
NM_006920.6(SCN1A):c.5266del (p.Val1756fs) rs1553520197
NM_006920.6(SCN1A):c.5273A>G (p.Tyr1758Cys) rs886039460
NM_006920.6(SCN1A):c.5293G>A (p.Val1765Ile) rs796053101
NM_006920.6(SCN1A):c.5302A>G (p.Asn1768Asp) rs794727416
NM_006920.6(SCN1A):c.5305A>G (p.Met1769Val) rs1085307945
NM_006920.6(SCN1A):c.5314G>A (p.Ala1772Thr) rs121917980
NM_006920.6(SCN1A):c.5315C>T (p.Ala1772Val) rs121917921
NM_006920.6(SCN1A):c.5328G>T (p.Glu1776Asp) rs796053038
NM_006920.6(SCN1A):c.5342C>A (p.Ala1781Asp) rs1085307942
NM_006920.6(SCN1A):c.5350G>C (p.Glu1784Gln) rs121918813
NM_006920.6(SCN1A):c.5353del (p.Ser1785fs) rs1553520151
NM_006920.6(SCN1A):c.5356G>C (p.Ala1786Pro) rs794727413
NM_006920.6(SCN1A):c.5366_5369TGAG[1] (p.Ser1790fs) rs1085307901
NM_006920.6(SCN1A):c.5374G>A (p.Asp1792Asn) rs1553520143
NM_006920.6(SCN1A):c.5383G>T (p.Glu1795Ter) rs796053039
NM_006920.6(SCN1A):c.5389T>C (p.Phe1797Leu) rs121918757
NM_006920.6(SCN1A):c.5400T>C (p.Val1800=) rs762310676
NM_006920.6(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_006920.6(SCN1A):c.5402G>A (p.Trp1801Ter) rs796053040
NM_006920.6(SCN1A):c.5403G>C (p.Trp1801Cys) rs863225037
NM_006920.6(SCN1A):c.5419del (p.Asp1807fs) rs1131691500
NM_006920.6(SCN1A):c.5450T>C (p.Leu1817Ser) rs1131691599
NM_006920.6(SCN1A):c.5453del (p.Ser1818fs) rs1064796990
NM_006920.6(SCN1A):c.5459T>G (p.Phe1820Cys) rs121918748
NM_006920.6(SCN1A):c.5468C>T (p.Ala1823Val) rs780809852
NM_006920.6(SCN1A):c.5471_5479del (p.Leu1824_Pro1826del) rs797044983
NM_006920.6(SCN1A):c.5473G>T (p.Glu1825Ter) rs1064795579
NM_006920.6(SCN1A):c.5477C>T (p.Pro1826Leu) rs149225252
NM_006920.6(SCN1A):c.5499A>G (p.Pro1833=) rs886043063
NM_006920.6(SCN1A):c.5499_5502AAAC[1] (p.Lys1835fs) rs794726726
NM_006920.6(SCN1A):c.5506del (p.Leu1836fs) rs398123599
NM_006920.6(SCN1A):c.5524G>C (p.Asp1842His) rs794727414
NM_006920.6(SCN1A):c.5530C>T (p.Pro1844Ser) rs794727415
NM_006920.6(SCN1A):c.5531C>T (p.Pro1844Leu) rs1057517958
NM_006920.6(SCN1A):c.5534T>A (p.Met1845Lys) rs796053041
NM_006920.6(SCN1A):c.5534T>C (p.Met1845Thr) rs796053041
NM_006920.6(SCN1A):c.5535G>A (p.Met1845Ile) rs144691638
NM_006920.6(SCN1A):c.5549G>A (p.Arg1850Gln) rs796053042
NM_006920.6(SCN1A):c.5567T>C (p.Ile1856Thr) rs1131691773
NM_006920.6(SCN1A):c.5573T>C (p.Phe1858Ser) rs1553520012
NM_006920.6(SCN1A):c.5580T>A (p.Phe1860Leu) rs1354992113
NM_006920.6(SCN1A):c.5582del (p.Thr1861fs) rs1553520001
NM_006920.6(SCN1A):c.5587C>T (p.Arg1863Trp) rs796053043
NM_006920.6(SCN1A):c.5594T>C (p.Leu1865Pro) rs796053044
NM_006920.6(SCN1A):c.5599G>C (p.Glu1867Gln) rs148703212
NM_006920.6(SCN1A):c.5599_5601delinsAAT (p.Glu1867Asn)
NM_006920.6(SCN1A):c.5606G>A (p.Gly1869Glu) rs201905405
NM_006920.6(SCN1A):c.5623C>A (p.Arg1875=)
NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter) rs779614747
NM_006920.6(SCN1A):c.5637A>G (p.Glu1879=) rs1057519211
NM_006920.6(SCN1A):c.5641C>T (p.Arg1881Ter) rs794726739
NM_006920.6(SCN1A):c.5644T>C (p.Phe1882Leu) rs1085307686
NM_006920.6(SCN1A):c.5648T>C (p.Met1883Thr) rs562208324
NM_006920.6(SCN1A):c.5675_5678dup (p.Pro1894fs) rs796053086
NM_006920.6(SCN1A):c.5677C>T (p.Gln1893Ter) rs796053103
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.5710G>A (p.Glu1904Lys) rs796053045
NM_006920.6(SCN1A):c.5711_5715del (p.Glu1904fs) rs797044984
NM_006920.6(SCN1A):c.5713G>T (p.Glu1905Ter) rs796053046
NM_006920.6(SCN1A):c.5713del (p.Glu1905fs) rs796053087
NM_006920.6(SCN1A):c.5720C>T (p.Ser1907Phe) rs796053048
NM_006920.6(SCN1A):c.5722G>C (p.Ala1908Pro) rs796053104
NM_006920.6(SCN1A):c.5732T>C (p.Ile1911Thr) rs121917981
NM_006920.6(SCN1A):c.5738G>A (p.Arg1913His) rs3749029
NM_006920.6(SCN1A):c.5744A>G (p.Tyr1915Cys) rs376669368
NM_006920.6(SCN1A):c.5745C>G (p.Tyr1915Ter) rs1064794251
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.6(SCN1A):c.5749C>T (p.Arg1917Cys) rs121917956
NM_006920.6(SCN1A):c.5764del (p.Arg1922fs) rs587780446
NM_006920.6(SCN1A):c.5773A>G (p.Lys1925Glu) rs796053049
NM_006920.6(SCN1A):c.5776C>G (p.Gln1926Glu) rs1358776988
NM_006920.6(SCN1A):c.5789C>T (p.Thr1930Met) rs756845310
NM_006920.6(SCN1A):c.5818G>T (p.Ala1940Ser) rs376656165
NM_006920.6(SCN1A):c.5819C>T (p.Ala1940Val) rs1057524816
NM_006920.6(SCN1A):c.5822_5824del (p.Asn1941_Leu1942delinsIle) rs1553519782
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.5844G>T (p.Met1948Ile) rs763997333
NM_006920.6(SCN1A):c.5863G>T (p.Glu1955Ter) rs1057524615
NM_006920.6(SCN1A):c.5878G>C (p.Glu1960Gln) rs1553519738
NM_006920.6(SCN1A):c.5879A>G (p.Glu1960Gly) rs771936735
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308
NM_006920.6(SCN1A):c.5930G>A (p.Arg1977Gln) rs769477807
NM_006920.6(SCN1A):c.5955A>C (p.Lys1985Asn) rs371243629
NM_006920.6(SCN1A):c.5976_5980dup (p.Lys1994fs) rs1553519690

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