ClinVar Miner

List of variants in gene SCN1A reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 358
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val) rs759121197 0.00001
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) rs141188608 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu) rs767045134 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn) rs1025532519 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) rs748816300 0.00001
NM_001165963.4(SCN1A):c.413T>G (p.Ile138Ser) rs1553552390 0.00001
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) rs970867558 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly) rs762927460 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) rs398123601 0.00001
NC_000002.11:g.(?_166847976)_(166851014_?)del
NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp) rs1553548096
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser) rs1553548063
NM_001165963.4(SCN1A):c.1028+1G>A rs863225030
NM_001165963.4(SCN1A):c.1028+1del rs886041980
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala) rs121918753
NM_001165963.4(SCN1A):c.1029-2A>C
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu) rs2105868295
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)
NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser) rs2105867993
NM_001165963.4(SCN1A):c.1069A>T (p.Asn357Tyr) rs1057524752
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala) rs121917923
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) rs1553547528
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs) rs2105867534
NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro) rs1131691465
NM_001165963.4(SCN1A):c.1090A>C (p.Ser364Arg) rs1057518094
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) rs752775574
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) rs750209664
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro) rs1698009615
NM_001165963.4(SCN1A):c.1112C>T (p.Ala371Val) rs796052971
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser) rs1553547448
NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr) rs1698007004
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)
NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) rs1698003832
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.1141C>G (p.Gln381Glu) rs1553547403
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala) rs1697999557
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro) rs1697998959
NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys) rs1697998080
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) rs746413385
NM_001165963.4(SCN1A):c.1170+4A>G rs1697995660
NM_001165963.4(SCN1A):c.1170+5G>C rs1057524737
NM_001165963.4(SCN1A):c.1171-1G>A
NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
NM_001165963.4(SCN1A):c.1195T>G (p.Tyr399Asp) rs796052974
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr) rs794726725
NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del) rs2105862483
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) rs796053094
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn) rs398123581
NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val) rs1697904829
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter)
NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser) rs2105862220
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp) rs794726826
NM_001165963.4(SCN1A):c.1259del (p.Ala420fs) rs2105862149
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) rs1697892980
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs) rs2105861548
NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)
NM_001165963.4(SCN1A):c.1363C>T (p.Gln455Ter) rs1064796824
NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)
NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs)
NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs) rs2105851922
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) rs1553545740
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr) rs1684680680
NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe) rs1697647054
NM_001165963.4(SCN1A):c.1633T>C (p.Tyr545His) rs1064794913
NM_001165963.4(SCN1A):c.1660C>T (p.Gln554Ter) rs1064795620
NM_001165963.4(SCN1A):c.1662+3A>G rs794726773
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.1663-3_1663-2del
NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs)
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
NM_001165963.4(SCN1A):c.1766A>T (p.Asp589Val) rs398123584
NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly) rs1697479557
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_001165963.4(SCN1A):c.182T>C (p.Leu61Pro) rs1553560766
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs) rs1697433995
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs) rs1553544470
NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser) rs758871507
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val) rs1697296215
NM_001165963.4(SCN1A):c.2081C>A (p.Ser694Ter)
NM_001165963.4(SCN1A):c.2111dup (p.Glu705fs) rs1064795227
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup) rs1553560740
NM_001165963.4(SCN1A):c.2167del (p.Thr723fs)
NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)
NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala)
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro) rs2105982276
NM_001165963.4(SCN1A):c.2314del (p.Leu772fs) rs1064794508
NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)
NM_001165963.4(SCN1A):c.2344A>G (p.Thr782Ala) rs1574202324
NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile) rs2105827881
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2354T>C (p.Met785Thr) rs796053095
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile) rs2105827770
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr) rs773695263
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys) rs1057517959
NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val) rs1697134047
NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) rs121918782
NM_001165963.4(SCN1A):c.2369del (p.Tyr790fs)
NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle) rs1697127484
NM_001165963.4(SCN1A):c.2415+1G>T
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn) rs1696888691
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)
NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)
NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)
NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)
NM_001165963.4(SCN1A):c.243C>G (p.Asp81Glu) rs796053016
NM_001165963.4(SCN1A):c.2512_2514del (p.Phe838del)
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr) rs2105817051
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)
NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter) rs1553542262
NM_001165963.4(SCN1A):c.2569G>A (p.Val857Ile) rs796052982
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu) rs121918785
NM_001165963.4(SCN1A):c.2589+1G>C
NM_001165963.4(SCN1A):c.2589+2dup
NM_001165963.4(SCN1A):c.2589+3A>G rs794726775
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2590-3_2601del
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.4(SCN1A):c.2606T>C (p.Leu869Ser) rs1057518110
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) rs794726786
NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys) rs121918623
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg) rs1559200901
NM_001165963.4(SCN1A):c.264+1G>A
NM_001165963.4(SCN1A):c.264+1G>C rs1553560677
NM_001165963.4(SCN1A):c.264+3G>C rs746440689
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.2644A>T (p.Ile882Phe) rs1064797019
NM_001165963.4(SCN1A):c.265-2143G>A rs1574312497
NM_001165963.4(SCN1A):c.265-3C>G rs1553553614
NM_001165963.4(SCN1A):c.265del (p.Thr89fs) rs2105918665
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.266del (p.Thr89fs) rs1064797266
NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)
NM_001165963.4(SCN1A):c.2681C>G (p.Thr894Ser) rs796052983
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe) rs1574183148
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)
NM_001165963.4(SCN1A):c.2722G>C (p.Gly908Arg) rs796052984
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg)
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser) rs121918788
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly) rs121918788
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) rs794726718
NM_001165963.4(SCN1A):c.2796G>C (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) rs886041716
NM_001165963.4(SCN1A):c.2799C>A (p.His933Gln) rs1064795736
NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu)
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His) rs796052988
NM_001165963.4(SCN1A):c.2815C>G (p.His939Asp) rs121918736
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) rs121918736
NM_001165963.4(SCN1A):c.2815del (p.His939fs)
NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro) rs398123589
NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe) rs1057521080
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) rs1696628056
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2843T>C (p.Leu948Pro) rs2105806501
NM_001165963.4(SCN1A):c.2847del (p.Cys949fs)
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg) rs2105806431
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu)
NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln) rs121918786
NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) rs878854262
NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp) rs1041924436
NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser) rs2105806212
NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr) rs1696619508
NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile) rs1553541172
NM_001165963.4(SCN1A):c.2868G>T (p.Met956Ile) rs1553541172
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly) rs1696618804
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys)
NM_001165963.4(SCN1A):c.2897_2910del (p.Ala966fs) rs1553541066
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp) rs922757507
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe) rs1553540503
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly) rs121918756
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
NM_001165963.4(SCN1A):c.2955T>G (p.Asn985Lys) rs2105797652
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg) rs1696403356
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val) rs796052990
NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe) rs897883046
NM_001165963.4(SCN1A):c.2970G>T (p.Leu990Phe)
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe) rs1696401617
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro) rs1696400496
NM_001165963.4(SCN1A):c.2979_2992del (p.Ser993fs) rs1553540464
NM_001165963.4(SCN1A):c.2981C>T (p.Ser994Leu) rs1574172286
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys) rs1559195296
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu) rs2105918428
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) rs796053089
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln) rs794726793
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser) rs1699357096
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly) rs2105917940
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro) rs1699353976
NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)
NM_001165963.4(SCN1A):c.366T>G (p.Ile122Met) rs752918105
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.383+5C>A rs1060502185
NM_001165963.4(SCN1A):c.383+5C>G rs1060502185
NM_001165963.4(SCN1A):c.384-12A>C rs1574291210
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp) rs1553552378
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe) rs1699149959
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) rs1559249734
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg) rs121918631
NM_001165963.4(SCN1A):c.471_473+6del
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.473+5G>C rs1064794634
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn) rs1698961617
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile) rs1698960532
NM_001165963.4(SCN1A):c.491T>A (p.Ile164Lys) rs1574282312
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)
NM_001165963.4(SCN1A):c.502G>C (p.Glu168Gln)
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.509T>C (p.Leu170Pro) rs1064793315
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met) rs1283681963
NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.53_55del (p.Thr18del)
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
NM_001165963.4(SCN1A):c.563A>G (p.Asp188Gly)
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.566del (p.Pro189fs) rs1553551385
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile) rs121917983
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.602+2dup rs796053054
NM_001165963.4(SCN1A):c.602+3_602+6del rs1698937795
NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val) rs1553551312
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter) rs374555589
NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp) rs1698747852
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser) rs1553550618
NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly) rs1553550574
NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr) rs796052960
NM_001165963.4(SCN1A):c.657A>T (p.Arg219Ser) rs727504143
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro) rs796052961
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro) rs1553550552
NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser) rs796053091
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu) rs1574271827
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr) rs121917937
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_001165963.4(SCN1A):c.695-1G>A
NM_001165963.4(SCN1A):c.695-2A>G rs2105890879
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)
NM_001165963.4(SCN1A):c.719T>C (p.Leu240Pro) rs797045941
NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg) rs1574266328
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
NM_001165963.4(SCN1A):c.731T>C (p.Val244Ala) rs1553549902
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) rs796052962
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu) rs1553549845
NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu) rs2105890375
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg) rs1553549834
NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro) rs2105890296
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_001165963.4(SCN1A):c.779dup (p.Phe261fs) rs1574265485
NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro) rs1698602170
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.800A>C (p.Gln267Pro) rs200034964
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile) rs2105889888
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val) rs2105889854
NM_001165963.4(SCN1A):c.818T>C (p.Leu273Pro) rs1085307892
NM_001165963.4(SCN1A):c.827A>T (p.Lys276Ile) rs796052963
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys) rs1559238215
NM_001165963.4(SCN1A):c.841C>A (p.Pro281Thr) rs1553549660
NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg) rs2105888708
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter) rs1698574524
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.964+5G>A rs796052965
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg) rs796053093
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del) rs1553548194
NM_001165963.4(SCN1A):c.982del (p.Glu328fs) rs2105874493
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113
NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp) rs779184118
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) rs779184118
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr) rs2105874284

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