ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP
NM_001165963.1(SCN1A):c.4002+1953_4221del
NM_006920.6(SCN1A):c.2583_3173delinsAAGTTGGCAAAA (p.Trp862_Ile1058delinsSerTrpGlnAsn)
NM_006920.6(SCN1A):c.2588_3170del (p.Pro863fs)
NM_006920.6(SCN1A):c.3049del (p.Arg1017fs) rs1553540389
NM_006920.6(SCN1A):c.3060T>A (p.Tyr1020Ter) rs1553540382
NM_006920.6(SCN1A):c.3071_3077del (p.Gln1024fs)
NM_006920.6(SCN1A):c.3073C>T (p.Gln1025Ter) rs542420576
NM_006920.6(SCN1A):c.3162_3163del (p.Thr1055fs) rs1553540282
NM_006920.6(SCN1A):c.3196_3229dup (p.Thr1077fs)
NM_006920.6(SCN1A):c.3235dup (p.Ser1079fs) rs796053070
NM_006920.6(SCN1A):c.3259del (p.Asp1087fs) rs1553540213
NM_006920.6(SCN1A):c.3262G>T (p.Glu1088Ter) rs1553540207
NM_006920.6(SCN1A):c.3273C>A (p.Tyr1091Ter) rs863225032
NM_006920.6(SCN1A):c.3294dup (p.Ser1099fs) rs1559193213
NM_006920.6(SCN1A):c.3310_3311del (p.Val1104fs) rs1559193050
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.3376del (p.Asp1126fs) rs796053071
NM_006920.6(SCN1A):c.3392_3393del (p.Lys1131fs) rs886039529
NM_006920.6(SCN1A):c.3398_3399del (p.Lys1133fs) rs1553534296
NM_006920.6(SCN1A):c.3406G>T (p.Glu1136Ter) rs794726733
NM_006920.6(SCN1A):c.3422C>A (p.Ser1141Ter) rs794726728
NM_006920.6(SCN1A):c.3444del (p.Ile1148fs) rs794726729
NM_006920.6(SCN1A):c.3454del (p.Pro1151_Val1152insTer) rs794726774
NM_006920.6(SCN1A):c.3463C>T (p.Gln1155Ter) rs368609628
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3517+1G>A rs794726836
NM_006920.6(SCN1A):c.3517+2T>C
NM_006920.6(SCN1A):c.3520del (p.Cys1174fs) rs796053068
NM_006920.6(SCN1A):c.3574C>T (p.Gln1192Ter) rs796052995
NM_006920.6(SCN1A):c.3576del (p.Gln1192fs)
NM_006920.6(SCN1A):c.3577T>C (p.Trp1193Arg) rs121917930
NM_006920.6(SCN1A):c.3578G>A (p.Trp1193Ter) rs1559149128
NM_006920.6(SCN1A):c.3582G>A (p.Trp1194Ter) rs794726720
NM_006920.6(SCN1A):c.3596C>A (p.Thr1199Lys) rs121918738
NM_006920.6(SCN1A):c.3598dup (p.Cys1200fs) rs1060502182
NM_006920.6(SCN1A):c.3602_3603delinsA (p.Phe1201fs)
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3624G>A (p.Trp1208Ter) rs863225033
NM_006920.6(SCN1A):c.3628G>C (p.Glu1210Gln) rs794726854
NM_006920.6(SCN1A):c.3657dup (p.Ser1220Ter) rs1057519534
NM_006920.6(SCN1A):c.3671del (p.Leu1224fs) rs869312670
NM_006920.6(SCN1A):c.3672+1G>A rs794726744
NM_006920.6(SCN1A):c.3672+1G>T
NM_006920.6(SCN1A):c.3672+2T>A rs794726735
NM_006920.6(SCN1A):c.3673G>C (p.Ala1225Pro) rs794726770
NM_006920.6(SCN1A):c.3683_3684AT[6] (p.Asp1232fs) rs796053072
NM_006920.6(SCN1A):c.3690_3693del (p.Ile1229_Tyr1230insTer) rs1553531385
NM_006920.6(SCN1A):c.3693_3694insAT (p.Asp1232fs) rs794726706
NM_006920.6(SCN1A):c.3697C>T (p.Gln1233Ter) rs794726727
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.3724G>T (p.Glu1242Ter) rs794726817
NM_006920.6(SCN1A):c.3730G>C (p.Ala1244Pro) rs777939538
NM_006920.6(SCN1A):c.3743dup (p.Thr1249fs) rs796053073
NM_006920.6(SCN1A):c.3745A>C (p.Thr1249Pro) rs121918739
NM_006920.6(SCN1A):c.3750C>G (p.Tyr1250Ter)
NM_006920.6(SCN1A):c.3752_3764del (p.Ile1251fs)
NM_006920.6(SCN1A):c.3769_3779del (p.Leu1257fs) rs794726709
NM_006920.6(SCN1A):c.3776A>C (p.Lys1259Thr) rs121918626
NM_006920.6(SCN1A):c.3779G>A (p.Trp1260Ter)
NM_006920.6(SCN1A):c.3785C>T (p.Ala1262Val) rs794726841
NM_006920.6(SCN1A):c.3788A>C (p.Tyr1263Ser) rs794726852
NM_006920.6(SCN1A):c.3789T>G (p.Tyr1263Ter) rs1060502188
NM_006920.6(SCN1A):c.3795T>A (p.Tyr1265Ter) rs794726731
NM_006920.6(SCN1A):c.3819G>A (p.Trp1273Ter) rs1553531178
NM_006920.6(SCN1A):c.3819del (p.Trp1273fs) rs863225034
NM_006920.6(SCN1A):c.3820dup (p.Cys1274fs) rs796053074
NM_006920.6(SCN1A):c.3824G>A (p.Trp1275Ter) rs886039705
NM_006920.6(SCN1A):c.3825G>A (p.Trp1275Ter) rs794726853
NM_006920.6(SCN1A):c.3827T>C (p.Leu1276Pro) rs121918740
NM_006920.6(SCN1A):c.3844del (p.Asp1282fs) rs886041562
NM_006920.6(SCN1A):c.3846+1G>T rs794726700
NM_006920.6(SCN1A):c.3847-1G>T rs1559140855
NM_006920.6(SCN1A):c.3847-2A>G rs794726816
NM_006920.6(SCN1A):c.3865del (p.Thr1289fs) rs1057518229
NM_006920.6(SCN1A):c.3866C>G (p.Thr1289Arg) rs146878122
NM_006920.6(SCN1A):c.3919_3942del (p.Leu1307_Arg1314del) rs1553529461
NM_006920.6(SCN1A):c.3933_3943del (p.Arg1311fs) rs796053107
NM_006920.6(SCN1A):c.3935_3936CT[3] (p.Leu1313_Arg1314insTer) rs794726723
NM_006920.6(SCN1A):c.3938dup (p.Arg1314fs) rs1559140306
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.3964del (p.Gly1321_Met1322insTer) rs1553529426
NM_006920.6(SCN1A):c.3969+2T>C rs1559140110
NM_006920.6(SCN1A):c.3970-11_4003del rs1559128532
NM_006920.6(SCN1A):c.3970G>A (p.Val1324Met) rs121917960
NM_006920.6(SCN1A):c.3980A>C (p.Asn1327Thr) rs797044952
NM_006920.6(SCN1A):c.3983C>A (p.Ala1328Asp) rs794726789
NM_006920.6(SCN1A):c.3983C>T (p.Ala1328Val) rs794726789
NM_006920.6(SCN1A):c.3994G>C (p.Ala1332Pro) rs796053006
NM_006920.6(SCN1A):c.4011G>A (p.Met1337Ile) rs794726822
NM_006920.6(SCN1A):c.4022T>C (p.Leu1341Pro) rs794726821
NM_006920.6(SCN1A):c.4024G>C (p.Val1342Leu) rs121917954
NM_006920.6(SCN1A):c.4024G>T (p.Val1342Phe)
NM_006920.6(SCN1A):c.4028G>T (p.Cys1343Phe) rs1057521537
NM_006920.6(SCN1A):c.4053C>G (p.Ser1351Arg) rs794726779
NM_006920.6(SCN1A):c.4055T>A (p.Ile1352Asn) rs794726707
NM_006920.6(SCN1A):c.4076C>T (p.Ala1359Val) rs1553525210
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.4133del (p.Asp1378fs) rs796053077
NM_006920.6(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.6(SCN1A):c.4135G>C (p.Val1379Leu) rs121917986
NM_006920.6(SCN1A):c.4141_4153del (p.Asn1381fs) rs1553525036
NM_006920.6(SCN1A):c.4144_4147delinsTG (p.His1382fs)
NM_006920.6(SCN1A):c.4155C>A (p.Cys1385Ter) rs794726745
NM_006920.6(SCN1A):c.4183dup (p.Ala1395fs) rs796053078
NM_006920.6(SCN1A):c.4186C>T (p.Arg1396Ter) rs398123593
NM_006920.6(SCN1A):c.4190G>A (p.Trp1397Ter) rs794726784
NM_006920.6(SCN1A):c.4191G>A (p.Trp1397Ter) rs794727337
NM_006920.6(SCN1A):c.4203del (p.Lys1401_Val1402insTer) rs1060502183
NM_006920.6(SCN1A):c.4211_4212del (p.Asn1403_Phe1404insTer) rs794726705
NM_006920.6(SCN1A):c.4233T>A (p.Tyr1411Ter) rs863225035
NM_006920.6(SCN1A):c.4234_4235CT[1] (p.Ser1413fs)
NM_006920.6(SCN1A):c.4249G>T (p.Val1417Phe) rs878854263
NM_006920.6(SCN1A):c.4250T>C (p.Val1417Ala) rs121918627
NM_006920.6(SCN1A):c.4251+1G>T rs1553524865
NM_006920.6(SCN1A):c.4251+2T>C rs398123595
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.4268G>A (p.Trp1423Ter) rs1559122263
NM_006920.6(SCN1A):c.4269G>A (p.Trp1423Ter) rs794726699
NM_006920.6(SCN1A):c.4285del (p.Ala1429fs) rs796053079
NM_006920.6(SCN1A):c.4300A>T (p.Arg1434Ter) rs1553523142
NM_006920.6(SCN1A):c.4305+1G>C rs1553523138
NM_006920.6(SCN1A):c.4305+1G>T rs1553523138
NM_006920.6(SCN1A):c.4305+4A>C rs794726734
NM_006920.6(SCN1A):c.4306-1G>A rs1553522517
NM_006920.6(SCN1A):c.4318C>A (p.Pro1440Thr) rs794726696
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4351T>C (p.Tyr1451His) rs1559119345
NM_006920.6(SCN1A):c.4379C>T (p.Ser1460Phe) rs794726809
NM_006920.6(SCN1A):c.4411dup (p.Ile1471fs)
NM_006920.6(SCN1A):c.4417_4420del (p.Asp1473fs) rs1559118996
NM_006920.6(SCN1A):c.4429del (p.Gln1477fs) rs1553522321
NM_006920.6(SCN1A):c.4432C>A (p.Gln1478Lys) rs121918628
NM_006920.6(SCN1A):c.4434G>C (p.Gln1478His) rs121918633
NM_006920.6(SCN1A):c.4443+1A>G rs796053014
NM_006920.6(SCN1A):c.4443+1A>T rs796053014
NM_006920.6(SCN1A):c.4444-1C>T rs1553521567
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4462T>C (p.Phe1488Leu) rs121918632
NM_006920.6(SCN1A):c.4471G>T (p.Glu1491Ter) rs1553521538
NM_006920.6(SCN1A):c.4488C>G (p.Tyr1496Ter) rs750997506
NM_006920.6(SCN1A):c.4508T>G (p.Leu1503Ter)
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
NM_006920.6(SCN1A):c.4514C>G (p.Ser1505Trp) 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.4521del (p.Lys1507fs) rs794726825
NM_006920.6(SCN1A):c.4521dup (p.Pro1508fs) rs794726825
NM_006920.6(SCN1A):c.4529del (p.Lys1510fs) rs1064796343
NM_006920.6(SCN1A):c.4540C>T (p.Arg1514Ter) rs794726752
NM_006920.6(SCN1A):c.4548+5G>C rs1559114303
NM_006920.6(SCN1A):c.4577dup (p.Val1527fs) rs886041982
NM_006920.6(SCN1A):c.4578_4612dup (p.Ile1538delinsThrTer) rs794726757
NM_006920.6(SCN1A):c.4648G>T (p.Glu1550Ter) rs796053024
NM_006920.6(SCN1A):c.4655_4659del (p.Asp1552fs) rs1559110846
NM_006920.6(SCN1A):c.4724G>A (p.Gly1575Glu) rs121918742
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.4733T>G (p.Val1578Gly) rs764037830
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.4761T>G (p.Tyr1587Ter) rs796053026
NM_006920.6(SCN1A):c.4778G>A (p.Trp1593Ter) rs794726800
NM_006920.6(SCN1A):c.4779del (p.Gly1592_Trp1593insTer) rs886043532
NM_006920.6(SCN1A):c.4787_4788del (p.Ile1595_Phe1596insTer) rs796053083
NM_006920.6(SCN1A):c.4788del (p.Phe1596fs) rs796053083
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4790del (p.Asp1597fs) rs794726785
NM_006920.6(SCN1A):c.4794_4795TG[3] (p.Val1600fs) rs794726850
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4820-1G>C rs1553520530
NM_006920.6(SCN1A):c.4846_4850dup (p.Tyr1617Ter) rs794726701
NM_006920.6(SCN1A):c.4863dup (p.Thr1622fs) rs796053084
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.4898G>A (p.Gly1633Asp) rs796053030
NM_006920.6(SCN1A):c.4900C>T (p.Arg1634Ter) rs794726759
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4901G>C (p.Arg1634Pro) rs121917976
NM_006920.6(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
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.4935C>G (p.Ile1645Met) rs121917955
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4943T>C (p.Leu1648Pro) rs1559105368
NM_006920.6(SCN1A):c.4945_4946CT[1] (p.Phe1650fs) rs1559105301
NM_006920.6(SCN1A):c.4946T>C (p.Leu1649Pro) rs1131691675
NM_006920.6(SCN1A):c.4952C>T (p.Ala1651Val) rs794726839
NM_006920.6(SCN1A):c.4960_4963dup (p.Ser1655fs) rs794726819
NM_006920.6(SCN1A):c.4964C>T (p.Ser1655Phe) rs794726760
NM_006920.6(SCN1A):c.4970C>G (p.Pro1657Arg) rs794726698
NM_006920.6(SCN1A):c.4970del (p.Pro1657fs) rs794726758
NM_006920.6(SCN1A):c.4973C>A (p.Ala1658Glu) rs397514458
NM_006920.6(SCN1A):c.4977_4980del (p.Phe1660fs) rs794726754
NM_006920.6(SCN1A):c.4981A>C (p.Asn1661His) rs794726740
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.5030G>T (p.Gly1677Val) rs794726851
NM_006920.6(SCN1A):c.5049T>G (p.Tyr1683Ter) rs794726748
NM_006920.6(SCN1A):c.5073T>A (p.Asp1691Glu) rs794726804
NM_006920.6(SCN1A):c.5075A>T (p.Asp1692Val) rs794726802
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
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.5149_5165del (p.Gly1717fs) rs1553520298
NM_006920.6(SCN1A):c.5189G>A (p.Cys1730Tyr) rs794726763
NM_006920.6(SCN1A):c.5189G>C (p.Cys1730Ser)
NM_006920.6(SCN1A):c.5217_5218insGG (p.Ser1740fs) rs794726702
NM_006920.6(SCN1A):c.5217_5219del (p.Ser1739_Ser1740delinsArg) rs794726703
NM_006920.6(SCN1A):c.5230G>T (p.Asp1744Tyr) rs927722314
NM_006920.6(SCN1A):c.5231A>G (p.Asp1744Gly) rs794726722
NM_006920.6(SCN1A):c.5236G>C (p.Gly1746Arg) rs1553520227
NM_006920.6(SCN1A):c.5240_5244del (p.Asn1747fs) rs796053085
NM_006920.6(SCN1A):c.5251_5258dup (p.Phe1753fs) rs794726814
NM_006920.6(SCN1A):c.5264_5265del (p.Phe1755fs) rs794726832
NM_006920.6(SCN1A):c.5301del (p.Asn1768fs) rs794726783
NM_006920.6(SCN1A):c.5313C>G (p.Ile1771Met) rs121918763
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.5316_5319dup (p.Ile1774fs) rs794726741
NM_006920.6(SCN1A):c.5353del (p.Ser1785fs) rs1553520151
NM_006920.6(SCN1A):c.5366_5369TGAG[1] (p.Ser1790fs) rs1085307901
NM_006920.6(SCN1A):c.5366del (p.Leu1789fs)
NM_006920.6(SCN1A):c.5371G>T (p.Glu1791Ter) rs794726780
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.5402G>A (p.Trp1801Ter) rs796053040
NM_006920.6(SCN1A):c.5403G>A (p.Trp1801Ter) rs863225037
NM_006920.6(SCN1A):c.5428C>T (p.Gln1810Ter) rs794726781
NM_006920.6(SCN1A):c.5437G>T (p.Glu1813Ter) rs794726769
NM_006920.6(SCN1A):c.5459T>G (p.Phe1820Cys) rs121918748
NM_006920.6(SCN1A):c.5462_5463insT (p.Ala1822fs) rs1559101585
NM_006920.6(SCN1A):c.5471_5479del (p.Leu1824_Pro1826del) rs797044983
NM_006920.6(SCN1A):c.5482C>G (p.Leu1828Val) rs794726801
NM_006920.6(SCN1A):c.5499_5502AAAC[1] (p.Lys1835fs) rs794726726
NM_006920.6(SCN1A):c.5503A>T (p.Lys1835Ter) rs372098964
NM_006920.6(SCN1A):c.5506del (p.Leu1836fs) rs398123599
NM_006920.6(SCN1A):c.5522T>C (p.Met1841Thr) rs121918783
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.5623C>T (p.Arg1875Ter) rs779614747
NM_006920.6(SCN1A):c.5629C>T (p.Gln1877Ter) rs794726845
NM_006920.6(SCN1A):c.5641C>T (p.Arg1881Ter) rs794726739
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.5701C>T (p.Arg1901Ter) rs77216276
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.5721del (p.Ala1908fs) rs1553519872
NM_006920.6(SCN1A):c.5732T>G (p.Ile1911Ser) rs121917981
NM_006920.6(SCN1A):c.5745C>G (p.Tyr1915Ter) rs1064794251
NM_006920.6(SCN1A):c.5747G>C (p.Arg1916Thr) rs794726737
NM_006920.6(SCN1A):c.5764del (p.Arg1922fs) rs587780446

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