ClinVar Miner

List of variants in gene SCN8A studied for Early Infantile Epileptic Encephalopathy, Autosomal Dominant

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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
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.*628G>A rs576031194
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.*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.-67C>T rs374729451
NM_014191.4(SCN8A):c.-95G>A rs886049580
NM_014191.4(SCN8A):c.1173C>T (p.Phe391=) rs886049582
NM_014191.4(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_014191.4(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.4(SCN8A):c.1977C>T (p.Ile659=) rs886049583
NM_014191.4(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.4(SCN8A):c.2371-6A>G rs187002252
NM_014191.4(SCN8A):c.2432A>G (p.Tyr811Cys) rs886049584
NM_014191.4(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_014191.4(SCN8A):c.2508C>T (p.Asp836=) rs772945312
NM_014191.4(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_014191.4(SCN8A):c.2901+13T>A rs375198486
NM_014191.4(SCN8A):c.3060G>C (p.Gln1020His) rs528718802
NM_014191.4(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.4(SCN8A):c.3158T>G (p.Ile1053Ser) rs587780453
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.3442G>A (p.Val1148Met) rs536452913
NM_014191.4(SCN8A):c.3480C>T (p.Cys1160=) rs760251864
NM_014191.4(SCN8A):c.3491-12C>T rs369532655
NM_014191.4(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.4(SCN8A):c.3942+7T>C rs757990460
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.4134G>T (p.Lys1378Asn) rs752899010
NM_014191.4(SCN8A):c.4141G>C (p.Glu1381Gln) rs886049585
NM_014191.4(SCN8A):c.4281+13A>G rs9943809
NM_014191.4(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.4(SCN8A):c.4542C>T (p.Ile1514=) rs370105734
NM_014191.4(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.4(SCN8A):c.4795+11T>C rs143139673
NM_014191.4(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.4(SCN8A):c.564C>G (p.Thr188=) rs886049581
NM_014191.4(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.4(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742
NM_014191.4(SCN8A):c.5943_*2GAG[1] (p.Ter1981=) rs555793953
NM_014191.4(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014191.4(SCN8A):c.855C>T (p.Pro285=) rs200784857

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