ClinVar Miner

List of variants in gene SCN8A studied for Early infantile epileptic encephalopathy

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Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP
NC_000012.11:g.(?_52077938)_(52095011_?)del
NM_001330260.2(SCN8A):c.640G>A (p.Gly214Ser) rs1555217386
NM_001330260.2(SCN8A):c.647T>C (p.Val216Ala) rs1555217390
NM_014191.4(SCN8A):c.1084G>T (p.Ala362Ser)
NM_014191.4(SCN8A):c.1094G>A (p.Arg365His)
NM_014191.4(SCN8A):c.1101G>A (p.Met367Ile) rs1555219147
NM_014191.4(SCN8A):c.1215G>A (p.Leu405=) rs751093826
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.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.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.1588C>T (p.Arg530Trp) rs761336234
NM_014191.4(SCN8A):c.1601A>G (p.Asn534Ser) rs760459642
NM_014191.4(SCN8A):c.1611G>A (p.Gly537=) rs774383541
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.1691G>A (p.Ser564Asn)
NM_014191.4(SCN8A):c.1730C>A (p.Pro577Gln)
NM_014191.4(SCN8A):c.1740G>A (p.Glu580=) rs776479136
NM_014191.4(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_014191.4(SCN8A):c.1790G>A (p.Arg597His)
NM_014191.4(SCN8A):c.1817G>A (p.Arg606Gln) rs1359860813
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.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.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.1965del (p.Gly656fs) rs1352024223
NM_014191.4(SCN8A):c.1999-4A>T rs765240974
NM_014191.4(SCN8A):c.2056G>A (p.Asp686Asn) rs373073046
NM_014191.4(SCN8A):c.2056G>T (p.Asp686Tyr)
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.2160G>A (p.Pro720=) rs967922373
NM_014191.4(SCN8A):c.2171A>G (p.Tyr724Cys)
NM_014191.4(SCN8A):c.2325T>C (p.His775=) rs1060504138
NM_014191.4(SCN8A):c.2371-6A>G rs187002252
NM_014191.4(SCN8A):c.2463C>T (p.Asp821=) rs773865400
NM_014191.4(SCN8A):c.2486_2489delinsCCATTA (p.Leu829fs)
NM_014191.4(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.4(SCN8A):c.2592A>C (p.Leu864=) rs1555225792
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.2670C>T (p.Ala890=) rs374452942
NM_014191.4(SCN8A):c.2671G>A (p.Val891Met)
NM_014191.4(SCN8A):c.2712T>C (p.Cys904=) rs1555225819
NM_014191.4(SCN8A):c.2900T>G (p.Val967Gly)
NM_014191.4(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
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.3061G>T (p.Ala1021Ser)
NM_014191.4(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.4(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
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.3183G>A (p.Lys1061=) rs749118803
NM_014191.4(SCN8A):c.3230A>G (p.Tyr1077Cys)
NM_014191.4(SCN8A):c.324C>T (p.Ala108=) rs146485624
NM_014191.4(SCN8A):c.3272A>G (p.Asn1091Ser) rs558738676
NM_014191.4(SCN8A):c.3321C>T (p.Asn1107=) rs374213514
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.3373-8G>A rs1275858718
NM_014191.4(SCN8A):c.3373-9C>T rs770747359
NM_014191.4(SCN8A):c.3433G>A (p.Glu1145Lys) rs1324401898
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.3702T>C (p.Tyr1234=) rs1555226833
NM_014191.4(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765
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.3820-7T>C rs375785915
NM_014191.4(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.4(SCN8A):c.3921A>T (p.Leu1307Phe) rs1565923638
NM_014191.4(SCN8A):c.3944T>C (p.Val1315Ala)
NM_014191.4(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
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.4155A>C (p.Thr1385=) rs144424662
NM_014191.4(SCN8A):c.417G>A (p.Met139Ile) rs1565886685
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.4278G>A (p.Arg1426=) rs143867796
NM_014191.4(SCN8A):c.4311T>C (p.Asn1437=) rs1060504139
NM_014191.4(SCN8A):c.4397A>G (p.Asn1466Ser)
NM_014191.4(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.4(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_014191.4(SCN8A):c.4471G>A (p.Ala1491Thr)
NM_014191.4(SCN8A):c.4477A>G (p.Lys1493Glu) rs1060501011
NM_014191.4(SCN8A):c.4492A>G (p.Lys1498Glu)
NM_014191.4(SCN8A):c.4543G>A (p.Val1515Ile) rs184568764
NM_014191.4(SCN8A):c.4557C>T (p.Val1519=) rs1555229490
NM_014191.4(SCN8A):c.4591C>T (p.Leu1531Phe)
NM_014191.4(SCN8A):c.4687A>G (p.Ile1563Val)
NM_014191.4(SCN8A):c.4704G>T (p.Glu1568Asp) rs1207860967
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.4770C>T (p.Phe1590=) rs368421269
NM_014191.4(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_014191.4(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.4(SCN8A):c.4796-8C>T rs758151653
NM_014191.4(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_014191.4(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_014191.4(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_014191.4(SCN8A):c.4885C>T (p.Arg1629Cys)
NM_014191.4(SCN8A):c.4944G>C (p.Leu1648Phe)
NM_014191.4(SCN8A):c.5015A>G (p.Asn1672Ser)
NM_014191.4(SCN8A):c.5046C>T (p.Ile1682=) rs376759643
NM_014191.4(SCN8A):c.5176G>T (p.Glu1726Ter) rs1555230980
NM_014191.4(SCN8A):c.5266A>G (p.Ile1756Val)
NM_014191.4(SCN8A):c.5269G>A (p.Val1757Ile) rs1555231008
NM_014191.4(SCN8A):c.5271C>T (p.Val1757=) rs752174650
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.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>G (p.Lys1853Arg)
NM_014191.4(SCN8A):c.5580G>A (p.Gly1860=) rs201484402
NM_014191.4(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.4(SCN8A):c.5607G>A (p.Met1869Ile) rs1565934425
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.5630A>G (p.Asn1877Ser) rs587780455
NM_014191.4(SCN8A):c.5645C>A (p.Ser1882Tyr)
NM_014191.4(SCN8A):c.5659A>G (p.Thr1887Ala)
NM_014191.4(SCN8A):c.5675G>A (p.Arg1892His) rs1565934531
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.5794C>T (p.Arg1932Trp) rs773966403
NM_014191.4(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742
NM_014191.4(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315
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.615-2A>C rs1060504137
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser)
NM_014191.4(SCN8A):c.707G>A (p.Gly236Asp) rs1555218603
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.810G>A (p.Leu270=) rs377606066
NM_014191.4(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_014191.4(SCN8A):c.903T>C (p.Asp301=) rs759557451
NM_014191.4(SCN8A):c.928+9C>T rs148027656
NM_014191.4(SCN8A):c.986A>C (p.Asp329Ala)
NM_014191.4(SCN8A):c.992+10T>A rs367746278
NM_014191.4(SCN8A):c.996A>G (p.Gln332=) rs1057522020

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