ClinVar Miner

List of variants in gene SCN8A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP
NC_000012.12:g.51770517C>T
NM_014191.3(SCN8A):c.1636-16delC rs754973942
NM_014191.3(SCN8A):c.277-18_277-15delCTCT rs765408317
NM_014191.4(SCN8A):c.*8C>T rs1057520364
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.1002A>G (p.Pro334=) rs1057520362
NM_014191.4(SCN8A):c.1099A>G (p.Met367Val) rs796053209
NM_014191.4(SCN8A):c.1104C>A (p.Thr368=) rs371872378
NM_014191.4(SCN8A):c.1135-13T>C rs1057520363
NM_014191.4(SCN8A):c.1135-48C>T
NM_014191.4(SCN8A):c.1173C>T (p.Phe391=) rs886049582
NM_014191.4(SCN8A):c.1204C>T (p.Leu402=) rs1057522082
NM_014191.4(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.4(SCN8A):c.1219T>A (p.Leu407Met) rs1555219495
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.1424G>A (p.Arg475Gln) rs201018451
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.1509C>A (p.Leu503=) rs376749872
NM_014191.4(SCN8A):c.1545G>T (p.Val515=) rs779561924
NM_014191.4(SCN8A):c.1591C>T (p.Leu531=) rs773176178
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.1677C>T (p.His559=) rs202212399
NM_014191.4(SCN8A):c.1686G>A (p.Lys562=) rs764350935
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.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.1792C>T (p.Arg598Trp) rs1064796357
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.1833G>T (p.Arg611=) rs35242963
NM_014191.4(SCN8A):c.1846_1854GGCTACAGC[3] (p.616_618GYS[3])
NM_014191.4(SCN8A):c.1908C>T (p.Ser636=) rs1053543226
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.1984C>T (p.Arg662Cys) rs76222829
NM_014191.4(SCN8A):c.1998+15G>T rs375797844
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.2287A>G (p.Ile763Val) rs794727128
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.2475C>A (p.Val825=) rs535061303
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.2545-4T>G rs1175986621
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.4(SCN8A):c.2586C>T (p.Asn862=) rs377396450
NM_014191.4(SCN8A):c.2616G>T (p.Val872=) rs778358285
NM_014191.4(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_014191.4(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_014191.4(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_014191.4(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_014191.4(SCN8A):c.2901+277T>C
NM_014191.4(SCN8A):c.2930T>C (p.Leu977Pro) rs1555226079
NM_014191.4(SCN8A):c.3024G>A (p.Val1008=) rs1057521309
NM_014191.4(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
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.3205G>A (p.Gly1069Ser) rs1064796374
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.3356C>T (p.Pro1119Leu) rs372096102
NM_014191.4(SCN8A):c.3372+129A>G
NM_014191.4(SCN8A):c.3372+62C>G
NM_014191.4(SCN8A):c.3408C>T (p.Thr1136=) rs1555226263
NM_014191.4(SCN8A):c.3423A>G (p.Pro1141=) rs376102810
NM_014191.4(SCN8A):c.3459A>G (p.Glu1153=) rs1057522632
NM_014191.4(SCN8A):c.3490+258G>A
NM_014191.4(SCN8A):c.3503G>A (p.Arg1168Gln) rs763817893
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.3669G>A (p.Glu1223=) rs1318771897
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.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.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.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.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.3979A>G (p.Ile1327Val) rs879255704
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.4122T>A (p.Thr1374=) rs115623439
NM_014191.4(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
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.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.4282-233C>T
NM_014191.4(SCN8A):c.4350C>T (p.Phe1450=) rs753234714
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.4411A>C (p.Lys1471Gln) rs1057521767
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.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.4472C>T (p.Ala1491Val) rs796053220
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.457A>C (p.Asn153His) rs796053232
NM_014191.4(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471
NM_014191.4(SCN8A):c.4678G>A (p.Val1560Met) rs764328953
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.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.4(SCN8A):c.474G>A (p.Ser158=) rs374989727
NM_014191.4(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
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.4795+11T>C rs143139673
NM_014191.4(SCN8A):c.4798A>G (p.Met1600Val) rs796053221
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.4873G>T (p.Gly1625Trp) rs879255708
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.4892T>A (p.Ile1631Asn) rs1085307999
NM_014191.4(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
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.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.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.5170G>T (p.Asp1724Tyr) rs1176149836
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.5271C>T (p.Val1757=) rs752174650
NM_014191.4(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
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.5403G>A (p.Gln1801=) rs1555231039
NM_014191.4(SCN8A):c.5417G>A (p.Cys1806Tyr) rs796053226
NM_014191.4(SCN8A):c.5472C>G (p.Pro1824=) rs60637
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.5555C>T (p.Thr1852Ile) rs796053227
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.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.5699T>C (p.Val1900Ala) rs1064796694
NM_014191.4(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
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.5887G>A (p.Glu1963Lys) rs1057518294
NM_014191.4(SCN8A):c.5887_5890GAAG[1] (p.Gly1964fs) rs1555231202
NM_014191.4(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_014191.4(SCN8A):c.615-189C>T
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.619A>G (p.Ile207Val) rs767123396
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
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.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.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.802A>C (p.Ile268Leu) rs1085308013
NM_014191.4(SCN8A):c.804C>T (p.Ile268=) rs375241678
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.858A>T (p.Ile286=) rs370911858
NM_014191.4(SCN8A):c.867C>T (p.Asn289=) rs375801783
NM_014191.4(SCN8A):c.928+164T>C
NM_014191.4(SCN8A):c.928+9C>T rs148027656
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

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