ClinVar Miner

List of variants in gene SCN8A

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Gene type:
ClinVar version:
Total variants: 569
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HGVS dbSNP
NC_000012.11:g.(?_52077938)_(52095011_?)del
NC_000012.12:g.51770517C>T
NM_001330260.2(SCN8A):c.640G>A (p.Gly214Ser) rs1555217386
NM_001330260.2(SCN8A):c.647T>C (p.Val216Ala) rs1555217390
NM_014191.3(SCN8A):c.1636-16delC rs754973942
NM_014191.3(SCN8A):c.277-18_277-15delCTCT rs765408317
NM_014191.4(SCN8A):c.*1149T>C rs570715105
NM_014191.4(SCN8A):c.*1199T>C rs181144372
NM_014191.4(SCN8A):c.*128C>T rs531602660
NM_014191.4(SCN8A):c.*1317C>T rs886049592
NM_014191.4(SCN8A):c.*1405C>T rs141823772
NM_014191.4(SCN8A):c.*1468T>C rs11829893
NM_014191.4(SCN8A):c.*1559G>A rs73299772
NM_014191.4(SCN8A):c.*1742T>G rs535755337
NM_014191.4(SCN8A):c.*1803C>G rs886049593
NM_014191.4(SCN8A):c.*1881A>T rs117540380
NM_014191.4(SCN8A):c.*2067T>G rs59570241
NM_014191.4(SCN8A):c.*2235_*2236del rs556349961
NM_014191.4(SCN8A):c.*2303T>C rs886049594
NM_014191.4(SCN8A):c.*2361T>C rs145994509
NM_014191.4(SCN8A):c.*2401T>G rs763119399
NM_014191.4(SCN8A):c.*243T>A rs886049586
NM_014191.4(SCN8A):c.*2484C>T rs886049595
NM_014191.4(SCN8A):c.*2497A>T rs190395161
NM_014191.4(SCN8A):c.*2651C>T rs76675503
NM_014191.4(SCN8A):c.*2662T>C rs760569392
NM_014191.4(SCN8A):c.*2825T>A rs74092804
NM_014191.4(SCN8A):c.*2826A>T rs11833203
NM_014191.4(SCN8A):c.*2832A>T rs886049596
NM_014191.4(SCN8A):c.*2908C>T rs570197791
NM_014191.4(SCN8A):c.*3033T>C rs172559
NM_014191.4(SCN8A):c.*3047T>C rs561570521
NM_014191.4(SCN8A):c.*3114_*3118TATAA[1] rs149334030
NM_014191.4(SCN8A):c.*324G>A rs185269212
NM_014191.4(SCN8A):c.*336T>A rs886049587
NM_014191.4(SCN8A):c.*3494G>C rs190760531
NM_014191.4(SCN8A):c.*3706del rs560775301
NM_014191.4(SCN8A):c.*3717T>G rs147574884
NM_014191.4(SCN8A):c.*3749G>T rs781671258
NM_014191.4(SCN8A):c.*3802G>A rs886049598
NM_014191.4(SCN8A):c.*3835T>C rs886049599
NM_014191.4(SCN8A):c.*3914_*3917dup rs370929972
NM_014191.4(SCN8A):c.*395C>T rs779857857
NM_014191.4(SCN8A):c.*4077T>C rs886049600
NM_014191.4(SCN8A):c.*4150C>A rs886049601
NM_014191.4(SCN8A):c.*4174A>G rs537437117
NM_014191.4(SCN8A):c.*4196G>A rs774353077
NM_014191.4(SCN8A):c.*4223C>T rs886049602
NM_014191.4(SCN8A):c.*4277_*4278TC[2] rs368023390
NM_014191.4(SCN8A):c.*4311C>G rs886049603
NM_014191.4(SCN8A):c.*434T>C rs146762782
NM_014191.4(SCN8A):c.*4375G>A rs60928084
NM_014191.4(SCN8A):c.*4399T>G rs117916312
NM_014191.4(SCN8A):c.*4412G>A rs546954995
NM_014191.4(SCN8A):c.*4470T>C rs151295158
NM_014191.4(SCN8A):c.*457_*458AC[8] rs397974598
NM_014191.4(SCN8A):c.*460C>T rs886049588
NM_014191.4(SCN8A):c.*4785_*4786TG[10] rs371717199
NM_014191.4(SCN8A):c.*4785_*4786TG[11] rs371717199
NM_014191.4(SCN8A):c.*4785_*4786TG[7] rs371717199
NM_014191.4(SCN8A):c.*4785_*4786TG[8] rs371717199
NM_014191.4(SCN8A):c.*4953T>C rs150461009
NM_014191.4(SCN8A):c.*5189C>A rs115534804
NM_014191.4(SCN8A):c.*5271G>C rs569034973
NM_014191.4(SCN8A):c.*559T>C rs886049589
NM_014191.4(SCN8A):c.*5G>A
NM_014191.4(SCN8A):c.*628G>A rs576031194
NM_014191.4(SCN8A):c.*6A>T rs771414635
NM_014191.4(SCN8A):c.*708A>T rs886049590
NM_014191.4(SCN8A):c.*762C>T rs3741706
NM_014191.4(SCN8A):c.*774T>C rs563030320
NM_014191.4(SCN8A):c.*791A>G rs886049591
NM_014191.4(SCN8A):c.*811T>C rs3741705
NM_014191.4(SCN8A):c.*884A>C rs527789517
NM_014191.4(SCN8A):c.*8C>T rs1057520364
NM_014191.4(SCN8A):c.*925T>C rs188422745
NM_014191.4(SCN8A):c.*965A>G rs552654863
NM_014191.4(SCN8A):c.-102G>C rs886049579
NM_014191.4(SCN8A):c.-157A>G rs886049578
NM_014191.4(SCN8A):c.-55+13A>G rs1555205506
NM_014191.4(SCN8A):c.-55+20C>G rs926099486
NM_014191.4(SCN8A):c.-61C>T rs1032376116
NM_014191.4(SCN8A):c.-67C>T rs374729451
NM_014191.4(SCN8A):c.-95G>A rs886049580
NM_014191.4(SCN8A):c.1002A>G (p.Pro334=) rs1057520362
NM_014191.4(SCN8A):c.1084G>T (p.Ala362Ser)
NM_014191.4(SCN8A):c.1094G>A (p.Arg365His)
NM_014191.4(SCN8A):c.1099A>G (p.Met367Val) rs796053209
NM_014191.4(SCN8A):c.1101G>A (p.Met367Ile) rs1555219147
NM_014191.4(SCN8A):c.1104C>A (p.Thr368=) rs371872378
NM_014191.4(SCN8A):c.1118A>G (p.Glu373Gly) rs1555219158
NM_014191.4(SCN8A):c.1135-13T>C rs1057520363
NM_014191.4(SCN8A):c.1135-48C>T
NM_014191.4(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_014191.4(SCN8A):c.1149C>T (p.Ala383=) rs201402959
NM_014191.4(SCN8A):c.1173C>T (p.Phe391=) rs886049582
NM_014191.4(SCN8A):c.1188T>C (p.Phe396=) rs1565893656
NM_014191.4(SCN8A):c.1204C>T (p.Leu402=) rs1057522082
NM_014191.4(SCN8A):c.1212C>T (p.Asn404=) rs1565893673
NM_014191.4(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.4(SCN8A):c.1217T>A (p.Ile406Asn) rs1565893686
NM_014191.4(SCN8A):c.1219T>A (p.Leu407Met) rs1555219495
NM_014191.4(SCN8A):c.1221G>C (p.Leu407Phe) rs879255698
NM_014191.4(SCN8A):c.1228G>C (p.Val410Leu) rs879255699
NM_014191.4(SCN8A):c.1241A>T (p.Tyr414Phe) rs794727000
NM_014191.4(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_014191.4(SCN8A):c.1339C>T (p.Gln447Ter) rs1060501012
NM_014191.4(SCN8A):c.1341+9T>C rs373377688
NM_014191.4(SCN8A):c.1342-18C>T rs763911558
NM_014191.4(SCN8A):c.1342-3T>G rs1131691459
NM_014191.4(SCN8A):c.1349C>T (p.Ala450Val) rs755154133
NM_014191.4(SCN8A):c.1350G>A (p.Ala450=)
NM_014191.4(SCN8A):c.1367G>A (p.Gly456Glu)
NM_014191.4(SCN8A):c.1411G>A (p.Gly471Arg)
NM_014191.4(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451
NM_014191.4(SCN8A):c.1426A>C (p.Ser476Arg) rs1060501008
NM_014191.4(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_014191.4(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_014191.4(SCN8A):c.1474C>T (p.Arg492Cys)
NM_014191.4(SCN8A):c.1475G>A (p.Arg492His)
NM_014191.4(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_014191.4(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383
NM_014191.4(SCN8A):c.1520A>C (p.Glu507Ala)
NM_014191.4(SCN8A):c.1545G>T (p.Val515=) rs779561924
NM_014191.4(SCN8A):c.1570A>G (p.Met524Val) rs886042925
NM_014191.4(SCN8A):c.1577G>A (p.Arg526Lys)
NM_014191.4(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_014191.4(SCN8A):c.1591C>T (p.Leu531=) rs773176178
NM_014191.4(SCN8A):c.1601A>G (p.Asn534Ser) rs760459642
NM_014191.4(SCN8A):c.1603A>T (p.Arg535Ter) rs1555219864
NM_014191.4(SCN8A):c.1611G>A (p.Gly537=) rs774383541
NM_014191.4(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_014191.4(SCN8A):c.1635+102G>A
NM_014191.4(SCN8A):c.1636-237G>A
NM_014191.4(SCN8A):c.1655G>C (p.Gly552Ala)
NM_014191.4(SCN8A):c.1662C>T (p.Pro554=) rs1555221470
NM_014191.4(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_014191.4(SCN8A):c.1686G>A (p.Lys562=) rs764350935
NM_014191.4(SCN8A):c.1691G>A (p.Ser564Asn)
NM_014191.4(SCN8A):c.1707G>C (p.Arg569Ser) rs267603508
NM_014191.4(SCN8A):c.1715G>A (p.Gly572Glu) rs1085307867
NM_014191.4(SCN8A):c.1717C>A (p.Arg573=) rs370074236
NM_014191.4(SCN8A):c.1730C>A (p.Pro577Gln)
NM_014191.4(SCN8A):c.1740G>A (p.Glu580=) rs776479136
NM_014191.4(SCN8A):c.1759G>T (p.Glu587Ter) rs1131691327
NM_014191.4(SCN8A):c.1770G>A (p.Thr590=) rs773379793
NM_014191.4(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_014191.4(SCN8A):c.1790G>A (p.Arg597His)
NM_014191.4(SCN8A):c.1792C>T (p.Arg598Trp) rs1064796357
NM_014191.4(SCN8A):c.1817G>A (p.Arg606Gln) rs1359860813
NM_014191.4(SCN8A):c.1818G>C (p.Arg606=) rs777424314
NM_014191.4(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.4(SCN8A):c.1824C>T (p.Arg608=)
NM_014191.4(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.4(SCN8A):c.1837A>G (p.Ser613Gly)
NM_014191.4(SCN8A):c.1846_1854GGCTACAGC[1] (p.616_618GYS[1]) rs758276968
NM_014191.4(SCN8A):c.1846_1854GGCTACAGC[3] (p.616_618GYS[3])
NM_014191.4(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041
NM_014191.4(SCN8A):c.1908C>T (p.Ser636=) rs1053543226
NM_014191.4(SCN8A):c.1915C>T (p.Arg639Cys) rs368345284
NM_014191.4(SCN8A):c.1937A>G (p.Asn646Ser) rs1565900032
NM_014191.4(SCN8A):c.1954A>G (p.Ile652Val)
NM_014191.4(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_014191.4(SCN8A):c.1962_1982del (p.Pro655_Gly661del) rs768554772
NM_014191.4(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_014191.4(SCN8A):c.1977C>T (p.Ile659=) rs886049583
NM_014191.4(SCN8A):c.1984C>T (p.Arg662Cys) rs76222829
NM_014191.4(SCN8A):c.1998+15G>T rs375797844
NM_014191.4(SCN8A):c.1999-4A>T rs765240974
NM_014191.4(SCN8A):c.1999-5del rs769940455
NM_014191.4(SCN8A):c.2002A>G (p.Thr668Ala) rs556325115
NM_014191.4(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791
NM_014191.4(SCN8A):c.2023_2029dup (p.Gly677fs) rs1565908565
NM_014191.4(SCN8A):c.2056G>A (p.Asp686Asn) rs373073046
NM_014191.4(SCN8A):c.2056G>T (p.Asp686Tyr)
NM_014191.4(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_014191.4(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.4(SCN8A):c.2109T>C (p.Val703=) rs369029348
NM_014191.4(SCN8A):c.2131+26A>C
NM_014191.4(SCN8A):c.2132-8_2132-5del rs587780452
NM_014191.4(SCN8A):c.2160G>A (p.Pro720=) rs967922373
NM_014191.4(SCN8A):c.2171A>G (p.Tyr724Cys)
NM_014191.4(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_014191.4(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_014191.4(SCN8A):c.2325T>C (p.His775=) rs1060504138
NM_014191.4(SCN8A):c.2370+14_2370+15del rs768088808
NM_014191.4(SCN8A):c.2371-17T>G rs1193837480
NM_014191.4(SCN8A):c.2371-6A>G rs187002252
NM_014191.4(SCN8A):c.2387T>C (p.Phe796Ser) rs1555225481
NM_014191.4(SCN8A):c.2432A>G (p.Tyr811Cys) rs886049584
NM_014191.4(SCN8A):c.2460dup (p.Asp821Ter) rs1565915356
NM_014191.4(SCN8A):c.2463C>T (p.Asp821=) rs773865400
NM_014191.4(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_014191.4(SCN8A):c.2486_2489delinsCCATTA (p.Leu829fs)
NM_014191.4(SCN8A):c.2493A>T (p.Glu831Asp) rs1565915374
NM_014191.4(SCN8A):c.2508C>T (p.Asp836=) rs772945312
NM_014191.4(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_014191.4(SCN8A):c.2525T>A (p.Val842Glu) rs1085307940
NM_014191.4(SCN8A):c.2530C>T (p.Arg844Ter) rs1555225521
NM_014191.4(SCN8A):c.2533T>C (p.Ser845Pro) rs1057518356
NM_014191.4(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_014191.4(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_014191.4(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_014191.4(SCN8A):c.2545-4T>G rs1175986621
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.4(SCN8A):c.2563G>A (p.Ala855Thr) rs1555225784
NM_014191.4(SCN8A):c.2586C>T (p.Asn862=) rs377396450
NM_014191.4(SCN8A):c.2592A>C (p.Leu864=) rs1555225792
NM_014191.4(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_014191.4(SCN8A):c.2616G>T (p.Val872=) rs778358285
NM_014191.4(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_014191.4(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_014191.4(SCN8A):c.2624T>A (p.Leu875Gln) rs879255701
NM_014191.4(SCN8A):c.2627G>T (p.Gly876Val) rs1060501010
NM_014191.4(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_014191.4(SCN8A):c.2668G>A (p.Ala890Thr) rs879255702
NM_014191.4(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_014191.4(SCN8A):c.2671G>A (p.Val891Met)
NM_014191.4(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_014191.4(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_014191.4(SCN8A):c.2691T>C (p.Phe897=) rs1057519119
NM_014191.4(SCN8A):c.2712T>C (p.Cys904=) rs1555225819
NM_014191.4(SCN8A):c.2733C>T (p.Asp911=) rs763201344
NM_014191.4(SCN8A):c.2806G>A (p.Glu936Lys) rs1555225833
NM_014191.4(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_014191.4(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_014191.4(SCN8A):c.289T>C (p.Leu97=) rs1565885975
NM_014191.4(SCN8A):c.2900T>G (p.Val967Gly)
NM_014191.4(SCN8A):c.2901+13T>A rs375198486
NM_014191.4(SCN8A):c.2901+277T>C
NM_014191.4(SCN8A):c.2930T>C (p.Leu977Pro) rs1555226079
NM_014191.4(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_014191.4(SCN8A):c.2936C>T (p.Ser979Phe) rs1555226081
NM_014191.4(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_014191.4(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_014191.4(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_014191.4(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_014191.4(SCN8A):c.3008G>A (p.Arg1003His) rs752402332
NM_014191.4(SCN8A):c.3024G>A (p.Val1008=) rs1057521309
NM_014191.4(SCN8A):c.302A>G (p.Lys101Arg) rs773765456
NM_014191.4(SCN8A):c.3048C>T (p.His1016=)
NM_014191.4(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_014191.4(SCN8A):c.3060G>C (p.Gln1020His) rs528718802
NM_014191.4(SCN8A):c.3061G>T (p.Ala1021Ser)
NM_014191.4(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.4(SCN8A):c.3090G>A (p.Glu1030=) rs1057523246
NM_014191.4(SCN8A):c.3092T>C (p.Val1031Ala) rs1057524300
NM_014191.4(SCN8A):c.3135C>T (p.Ile1045=) rs550579591
NM_014191.4(SCN8A):c.3147C>T (p.Thr1049=) rs567527548
NM_014191.4(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_014191.4(SCN8A):c.3150T>G (p.Gly1050=) rs552307188
NM_014191.4(SCN8A):c.3152C>T (p.Ala1051Val)
NM_014191.4(SCN8A):c.3158T>G (p.Ile1053Ser) rs587780453
NM_014191.4(SCN8A):c.3161A>C (p.His1054Pro) rs1060501009
NM_014191.4(SCN8A):c.3163C>T (p.Arg1055Trp) rs370141803
NM_014191.4(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631
NM_014191.4(SCN8A):c.3183G>A (p.Lys1061=) rs749118803
NM_014191.4(SCN8A):c.3204C>T (p.Ser1068=) rs201045619
NM_014191.4(SCN8A):c.3205G>A (p.Gly1069Ser) rs1064796374
NM_014191.4(SCN8A):c.3230A>G (p.Tyr1077Cys)
NM_014191.4(SCN8A):c.324C>T (p.Ala108=) rs146485624
NM_014191.4(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688
NM_014191.4(SCN8A):c.3272A>G (p.Asn1091Ser) rs558738676
NM_014191.4(SCN8A):c.331G>A (p.Ala111Thr) rs796053231
NM_014191.4(SCN8A):c.3321C>T (p.Asn1107=) rs374213514
NM_014191.4(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930
NM_014191.4(SCN8A):c.3345C>T (p.Ser1115=)
NM_014191.4(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102
NM_014191.4(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_014191.4(SCN8A):c.3372+129A>G
NM_014191.4(SCN8A):c.3372+62C>G
NM_014191.4(SCN8A):c.3373-8G>A rs1275858718
NM_014191.4(SCN8A):c.3373-9C>T rs770747359
NM_014191.4(SCN8A):c.3408C>T (p.Thr1136=) rs1555226263
NM_014191.4(SCN8A):c.340A>G (p.Ile114Val) rs527246057
NM_014191.4(SCN8A):c.3423A>G (p.Pro1141=) rs376102810
NM_014191.4(SCN8A):c.3433G>A (p.Glu1145Lys) rs1324401898
NM_014191.4(SCN8A):c.3442G>A (p.Val1148Met) rs536452913
NM_014191.4(SCN8A):c.3448C>T (p.Gln1150Ter) rs1555226280
NM_014191.4(SCN8A):c.3459A>G (p.Glu1153=) rs1057522632
NM_014191.4(SCN8A):c.3480C>T (p.Cys1160=) rs760251864
NM_014191.4(SCN8A):c.3490+20G>A rs303808
NM_014191.4(SCN8A):c.3490+258G>A
NM_014191.4(SCN8A):c.3491-10C>T rs373221046
NM_014191.4(SCN8A):c.3491-12C>T rs369532655
NM_014191.4(SCN8A):c.3503G>A (p.Arg1168Gln) rs763817893
NM_014191.4(SCN8A):c.3529G>A (p.Glu1177Lys) rs148742419
NM_014191.4(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_014191.4(SCN8A):c.3582C>T (p.Ile1194=) rs756909923
NM_014191.4(SCN8A):c.3640G>A (p.Ala1214Thr) rs769243993
NM_014191.4(SCN8A):c.3643C>T (p.Leu1215=) rs532528307
NM_014191.4(SCN8A):c.3645+112G>A
NM_014191.4(SCN8A):c.3645+14G>C rs202031360
NM_014191.4(SCN8A):c.3645+19T>G rs1057521948
NM_014191.4(SCN8A):c.3645+265A>G
NM_014191.4(SCN8A):c.3652G>A (p.Glu1218Lys) rs1555226823
NM_014191.4(SCN8A):c.3669G>A (p.Glu1223=) rs1318771897
NM_014191.4(SCN8A):c.3702T>C (p.Tyr1234=) rs1555226833
NM_014191.4(SCN8A):c.3705T>C (p.Ala1235=)
NM_014191.4(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765
NM_014191.4(SCN8A):c.3722A>G (p.Tyr1241Cys) rs796053213
NM_014191.4(SCN8A):c.3738G>A (p.Glu1246=) rs376953145
NM_014191.4(SCN8A):c.3769G>A (p.Val1257Ile) rs750829844
NM_014191.4(SCN8A):c.3783C>G (p.Thr1261=) rs1060504140
NM_014191.4(SCN8A):c.3801G>A (p.Leu1267=)
NM_014191.4(SCN8A):c.3819+13C>G rs754542157
NM_014191.4(SCN8A):c.3819+34C>G
NM_014191.4(SCN8A):c.3820-132G>T
NM_014191.4(SCN8A):c.3820-7T>C rs375785915
NM_014191.4(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.4(SCN8A):c.3830T>A (p.Val1277Asp) rs1057524050
NM_014191.4(SCN8A):c.3895A>T (p.Arg1299Ter) rs1064796430
NM_014191.4(SCN8A):c.3921A>T (p.Leu1307Phe) rs1565923638
NM_014191.4(SCN8A):c.3939G>A (p.Met1313Ile) rs1085307546
NM_014191.4(SCN8A):c.3942+7T>C rs757990460
NM_014191.4(SCN8A):c.3943-17C>G rs1057523298
NM_014191.4(SCN8A):c.3943-208G>A
NM_014191.4(SCN8A):c.3943G>T (p.Val1315Leu) rs1555228303
NM_014191.4(SCN8A):c.3944T>C (p.Val1315Ala)
NM_014191.4(SCN8A):c.3945G>A (p.Val1315=) rs1555228304
NM_014191.4(SCN8A):c.395+262T>C
NM_014191.4(SCN8A):c.395+327G>A
NM_014191.4(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_014191.4(SCN8A):c.3957C>T (p.Ala1319=) rs764790057
NM_014191.4(SCN8A):c.396-5T>C rs764928471
NM_014191.4(SCN8A):c.3966C>T (p.Gly1322=) rs775267842
NM_014191.4(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_014191.4(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_014191.4(SCN8A):c.3985A>G (p.Asn1329Asp) rs794727362
NM_014191.4(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_014191.4(SCN8A):c.3999G>A (p.Val1333=) rs796053208
NM_014191.4(SCN8A):c.402T>C (p.Phe134=) rs559668426
NM_014191.4(SCN8A):c.4049C>T (p.Ala1350Val)
NM_014191.4(SCN8A):c.4064A>G (p.Tyr1355Cys)
NM_014191.4(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.4(SCN8A):c.4134G>T (p.Lys1378Asn) rs752899010
NM_014191.4(SCN8A):c.4141G>C (p.Glu1381Gln) rs886049585
NM_014191.4(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_014191.4(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_014191.4(SCN8A):c.417G>A (p.Met139Ile) rs1565886685
NM_014191.4(SCN8A):c.4189_4208del (p.Asp1397fs) rs1565925940
NM_014191.4(SCN8A):c.4218T>C (p.Leu1406=) rs768214178
NM_014191.4(SCN8A):c.4227+225G>A
NM_014191.4(SCN8A):c.4228-27C>T
NM_014191.4(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_014191.4(SCN8A):c.4237A>G (p.Lys1413Glu) rs1555228668
NM_014191.4(SCN8A):c.4277G>A (p.Arg1426Gln) rs1057524240
NM_014191.4(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_014191.4(SCN8A):c.4281+13A>G rs9943809
NM_014191.4(SCN8A):c.4282-10C>G rs369145855
NM_014191.4(SCN8A):c.4282-233C>T
NM_014191.4(SCN8A):c.4311T>C (p.Asn1437=) rs1060504139
NM_014191.4(SCN8A):c.4350C>T (p.Phe1450=) rs753234714
NM_014191.4(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_014191.4(SCN8A):c.4359C>T (p.Phe1453=) rs746544103
NM_014191.4(SCN8A):c.435C>T (p.Asn145=) rs1057522588
NM_014191.4(SCN8A):c.4394A>T (p.Asp1465Val) rs1135401806
NM_014191.4(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_014191.4(SCN8A):c.4397A>G (p.Asn1466Ser)
NM_014191.4(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_014191.4(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_014191.4(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_014191.4(SCN8A):c.4411A>C (p.Lys1471Gln) rs1057521767
NM_014191.4(SCN8A):c.4412A>T (p.Lys1471Met) rs1057519120
NM_014191.4(SCN8A):c.4419+1A>G rs1064793722
NM_014191.4(SCN8A):c.4419+283C>T
NM_014191.4(SCN8A):c.4420-119A>G
NM_014191.4(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.4(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_014191.4(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_014191.4(SCN8A):c.4438T>A (p.Phe1480Ile) rs796053218
NM_014191.4(SCN8A):c.4438T>C (p.Phe1480Leu) rs796053218
NM_014191.4(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_014191.4(SCN8A):c.4446C>T (p.Thr1482=) rs374059983
NM_014191.4(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_014191.4(SCN8A):c.4471G>A (p.Ala1491Thr)
NM_014191.4(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_014191.4(SCN8A):c.4477A>G (p.Lys1493Glu) rs1060501011
NM_014191.4(SCN8A):c.4492A>G (p.Lys1498Glu)
NM_014191.4(SCN8A):c.4501C>A (p.Gln1501Lys) rs1057520149
NM_014191.4(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.4(SCN8A):c.4524+254T>C
NM_014191.4(SCN8A):c.4524+299G>A
NM_014191.4(SCN8A):c.4524+56A>G
NM_014191.4(SCN8A):c.4542C>T (p.Ile1514=) rs370105734
NM_014191.4(SCN8A):c.4543G>A (p.Val1515Ile) rs184568764
NM_014191.4(SCN8A):c.4551T>C (p.Asp1517=) rs1565929057
NM_014191.4(SCN8A):c.4557C>T (p.Val1519=) rs1555229490
NM_014191.4(SCN8A):c.457A>C (p.Asn153His) rs796053232
NM_014191.4(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471
NM_014191.4(SCN8A):c.4591C>T (p.Leu1531Phe)
NM_014191.4(SCN8A):c.4594A>G (p.Ile1532Val) rs1555229496
NM_014191.4(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811
NM_014191.4(SCN8A):c.4678G>A (p.Val1560Met) rs764328953
NM_014191.4(SCN8A):c.4687A>G (p.Ile1563Val)
NM_014191.4(SCN8A):c.4704G>T (p.Glu1568Asp) rs1207860967
NM_014191.4(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263
NM_014191.4(SCN8A):c.4725G>A (p.Ala1575=) rs756326813
NM_014191.4(SCN8A):c.4742T>A (p.Phe1581Tyr) rs1555229539
NM_014191.4(SCN8A):c.4743C>T (p.Phe1581=) rs919899554
NM_014191.4(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.4(SCN8A):c.474G>A (p.Ser158=) rs374989727
NM_014191.4(SCN8A):c.4754G>A (p.Trp1585Ter) rs1555229543
NM_014191.4(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_014191.4(SCN8A):c.4770C>T (p.Phe1590=) rs368421269
NM_014191.4(SCN8A):c.4771G>A (p.Val1591Met) rs1565929209
NM_014191.4(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_014191.4(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_014191.4(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.4(SCN8A):c.4780A>C (p.Ile1594Leu) rs752829853
NM_014191.4(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_014191.4(SCN8A):c.4795+11T>C rs143139673
NM_014191.4(SCN8A):c.4796-8C>T rs758151653
NM_014191.4(SCN8A):c.4798A>G (p.Met1600Val) rs796053221
NM_014191.4(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_014191.4(SCN8A):c.4813A>G (p.Ile1605Val) rs879255706
NM_014191.4(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_014191.4(SCN8A):c.485+17T>C rs748436294
NM_014191.4(SCN8A):c.485+18G>A rs369368623
NM_014191.4(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_014191.4(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_014191.4(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_014191.4(SCN8A):c.4865C>A (p.Ala1622Asp) rs1555230924
NM_014191.4(SCN8A):c.4873G>A (p.Gly1625Arg) rs879255708
NM_014191.4(SCN8A):c.4873G>T (p.Gly1625Trp) rs879255708
NM_014191.4(SCN8A):c.4877G>A (p.Arg1626His) rs886044328
NM_014191.4(SCN8A):c.4879A>C (p.Ile1627Leu) rs1131691414
NM_014191.4(SCN8A):c.4883T>G (p.Leu1628Trp) rs1555230928
NM_014191.4(SCN8A):c.4885C>T (p.Arg1629Cys)
NM_014191.4(SCN8A):c.4892T>A (p.Ile1631Asn) rs1085307999
NM_014191.4(SCN8A):c.4899C>T (p.Gly1633=)
NM_014191.4(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
NM_014191.4(SCN8A):c.491C>T (p.Thr164Met) rs775272996
NM_014191.4(SCN8A):c.492G>A (p.Thr164=) rs762641381
NM_014191.4(SCN8A):c.4936A>T (p.Met1646Leu) rs796053223
NM_014191.4(SCN8A):c.4944G>C (p.Leu1648Phe)
NM_014191.4(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_014191.4(SCN8A):c.4949C>T (p.Ala1650Val) rs796053224
NM_014191.4(SCN8A):c.4969C>T (p.Leu1657=) rs374755275
NM_014191.4(SCN8A):c.497C>T (p.Thr166Ile) rs1057520361
NM_014191.4(SCN8A):c.5015A>G (p.Asn1672Ser)
NM_014191.4(SCN8A):c.5035G>A (p.Glu1679Lys) rs796053225
NM_014191.4(SCN8A):c.5046C>T (p.Ile1682=) rs376759643
NM_014191.4(SCN8A):c.5077_5091del (p.Asn1693_Cys1697del) rs1064796263
NM_014191.4(SCN8A):c.5118T>C (p.Gly1706=) rs776753024
NM_014191.4(SCN8A):c.5152C>T (p.Pro1718Ser) rs794727442
NM_014191.4(SCN8A):c.5156C>G (p.Pro1719Arg) rs1565934070
NM_014191.4(SCN8A):c.5156_5157del (p.Pro1719fs) rs587776703
NM_014191.4(SCN8A):c.5170G>T (p.Asp1724Tyr) rs1176149836
NM_014191.4(SCN8A):c.5176G>T (p.Glu1726Ter) rs1555230980
NM_014191.4(SCN8A):c.5181C>A (p.His1727Gln) rs1057519190
NM_014191.4(SCN8A):c.5229C>A (p.Ile1743=) rs370268493
NM_014191.4(SCN8A):c.5232C>T (p.Phe1744=) rs1555231003
NM_014191.4(SCN8A):c.5265A>G (p.Leu1755=) rs1555231005
NM_014191.4(SCN8A):c.5266A>G (p.Ile1756Val)
NM_014191.4(SCN8A):c.5269G>A (p.Val1757Ile) rs1555231008
NM_014191.4(SCN8A):c.5270T>A (p.Val1757Asp) rs1555231010
NM_014191.4(SCN8A):c.5271C>T (p.Val1757=) rs752174650
NM_014191.4(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_014191.4(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_014191.4(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_014191.4(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_014191.4(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_014191.4(SCN8A):c.5366A>G (p.Tyr1789Cys) rs961205540
NM_014191.4(SCN8A):c.5385C>T (p.Phe1795=) rs748215769
NM_014191.4(SCN8A):c.5391C>T (p.Pro1797=) rs372155701
NM_014191.4(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_014191.4(SCN8A):c.5403G>A (p.Gln1801=) rs1555231039
NM_014191.4(SCN8A):c.5417G>A (p.Cys1806Tyr) rs796053226
NM_014191.4(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.4(SCN8A):c.5472C>G (p.Pro1824=) rs60637
NM_014191.4(SCN8A):c.5479A>G (p.Ile1827Val)
NM_014191.4(SCN8A):c.5490C>T (p.Ile1830=) rs200546525
NM_014191.4(SCN8A):c.5491G>A (p.Ala1831Thr)
NM_014191.4(SCN8A):c.5506A>G (p.Met1836Val) rs202187894
NM_014191.4(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_014191.4(SCN8A):c.5514C>T (p.Ser1838=) rs372388512
NM_014191.4(SCN8A):c.5549C>T (p.Ala1850Val)
NM_014191.4(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_014191.4(SCN8A):c.5558A>C (p.Lys1853Thr) rs1410900258
NM_014191.4(SCN8A):c.5558A>G (p.Lys1853Arg)
NM_014191.4(SCN8A):c.5577C>T (p.Ser1859=) rs185667241
NM_014191.4(SCN8A):c.5580G>A (p.Gly1860=) rs201484402
NM_014191.4(SCN8A):c.5597G>A (p.Arg1866Gln) rs1555231108
NM_014191.4(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.4(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_014191.4(SCN8A):c.5607G>A (p.Met1869Ile) rs1565934425
NM_014191.4(SCN8A):c.5610A>T (p.Glu1870Asp) rs879255711
NM_014191.4(SCN8A):c.5614C>G (p.Arg1872Gly) rs796053228
NM_014191.4(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_014191.4(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_014191.4(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_014191.4(SCN8A):c.5619C>T (p.Phe1873=)
NM_014191.4(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_014191.4(SCN8A):c.5645C>A (p.Ser1882Tyr)
NM_014191.4(SCN8A):c.564C>G (p.Thr188=) rs886049581
NM_014191.4(SCN8A):c.5656A>G (p.Ile1886Val) rs1411587460
NM_014191.4(SCN8A):c.5659A>G (p.Thr1887Ala)
NM_014191.4(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_014191.4(SCN8A):c.5675G>A (p.Arg1892His) rs1565934531
NM_014191.4(SCN8A):c.5699T>C (p.Val1900Ala) rs1064796694
NM_014191.4(SCN8A):c.5710C>T (p.Arg1904Cys) rs367984544
NM_014191.4(SCN8A):c.5711G>A (p.Arg1904His)
NM_014191.4(SCN8A):c.5760A>G (p.Thr1920=) rs781617696
NM_014191.4(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014191.4(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.4(SCN8A):c.5794C>T (p.Arg1932Trp) rs773966403
NM_014191.4(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742
NM_014191.4(SCN8A):c.579A>G (p.Pro193=) rs755900174
NM_014191.4(SCN8A):c.5809A>C (p.Ser1937Arg) rs796053230
NM_014191.4(SCN8A):c.5841T>C (p.Tyr1947=)
NM_014191.4(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315
NM_014191.4(SCN8A):c.5883A>G (p.Ala1961=)
NM_014191.4(SCN8A):c.5887G>A (p.Glu1963Lys) rs1057518294
NM_014191.4(SCN8A):c.5887_5890GAAG[1] (p.Gly1964fs) rs1555231202
NM_014191.4(SCN8A):c.5924T>C (p.Val1975Ala) rs1565934813
NM_014191.4(SCN8A):c.5943_*2GAG[1] (p.Ter1981=) rs555793953
NM_014191.4(SCN8A):c.605T>A (p.Ile202Asn) rs886042939
NM_014191.4(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_014191.4(SCN8A):c.614C>T (p.Ala205Val) rs796053233
NM_014191.4(SCN8A):c.615-189C>T
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.615-2A>C rs1060504137
NM_014191.4(SCN8A):c.618T>A (p.Tyr206Ter) rs1490133991
NM_014191.4(SCN8A):c.619A>G (p.Ile207Val) rs767123396
NM_014191.4(SCN8A):c.629T>C (p.Phe210Ser) rs879255693
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694
NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp) rs879255695
NM_014191.4(SCN8A):c.647T>A (p.Val216Asp) rs879255696
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly) rs879255696
NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro) rs1064794715
NM_014191.4(SCN8A):c.657A>G (p.Leu219=) rs773009820
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser)
NM_014191.4(SCN8A):c.706+13G>A rs376385273
NM_014191.4(SCN8A):c.707-15A>G rs149586118
NM_014191.4(SCN8A):c.707-15A>T rs149586118
NM_014191.4(SCN8A):c.707G>A (p.Gly236Asp) rs1555218603
NM_014191.4(SCN8A):c.718A>C (p.Ile240Leu) rs1064793923
NM_014191.4(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_014191.4(SCN8A):c.726T>A (p.Gly242=) rs779319824
NM_014191.4(SCN8A):c.744G>A (p.Val248=) rs201298141
NM_014191.4(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014191.4(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_014191.4(SCN8A):c.768C>A (p.Ile256=) rs1231477580
NM_014191.4(SCN8A):c.769C>G (p.Leu257Val) rs1064794782
NM_014191.4(SCN8A):c.773C>T (p.Thr258Ile) rs1555218630
NM_014191.4(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_014191.4(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
NM_014191.4(SCN8A):c.802A>C (p.Ile268Leu) rs1085308013
NM_014191.4(SCN8A):c.804C>T (p.Ile268=) rs375241678
NM_014191.4(SCN8A):c.810G>A (p.Leu270=) rs377606066
NM_014191.4(SCN8A):c.814C>T (p.Leu272=) rs769727012
NM_014191.4(SCN8A):c.817T>C (p.Phe273Leu) rs796053234
NM_014191.4(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_014191.4(SCN8A):c.855C>T (p.Pro285=) rs200784857
NM_014191.4(SCN8A):c.858A>T (p.Ile286=) rs370911858
NM_014191.4(SCN8A):c.867C>T (p.Asn289=) rs375801783
NM_014191.4(SCN8A):c.903T>C (p.Asp301=) rs759557451
NM_014191.4(SCN8A):c.920A>G (p.Asn307Ser) rs1057519557
NM_014191.4(SCN8A):c.928+164T>C
NM_014191.4(SCN8A):c.928+9C>T rs148027656
NM_014191.4(SCN8A):c.929-4C>G rs771227940
NM_014191.4(SCN8A):c.986A>C (p.Asp329Ala)
NM_014191.4(SCN8A):c.992+10T>A rs367746278
NM_014191.4(SCN8A):c.993-90_993-50del
NM_014191.4(SCN8A):c.996A>G (p.Gln332=) rs1057522020
NP_055006.1(SCN8A):p.Pro1428_Lys1473del

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