ClinVar Miner

List of variants in gene SCN8A studied for Early infantile epileptic encephalopathy 13

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Total variants: 50
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HGVS dbSNP
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.1588C>T (p.Arg530Trp) rs761336234
NM_014191.4(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791
NM_014191.4(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_014191.4(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.4(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_014191.4(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_014191.4(SCN8A):c.2624T>A (p.Leu875Gln) rs879255701
NM_014191.4(SCN8A):c.2668G>A (p.Ala890Thr) rs879255702
NM_014191.4(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_014191.4(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
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.3267C>A (p.Asn1089Lys) rs761386688
NM_014191.4(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_014191.4(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_014191.4(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_014191.4(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
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.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.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.4(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_014191.4(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.4(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_014191.4(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_014191.4(SCN8A):c.4813A>G (p.Ile1605Val) rs879255706
NM_014191.4(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_014191.4(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_014191.4(SCN8A):c.4873G>A (p.Gly1625Arg) rs879255708
NM_014191.4(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_014191.4(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_014191.4(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_014191.4(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_014191.4(SCN8A):c.5610A>T (p.Glu1870Asp) rs879255711
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.629T>C (p.Phe210Ser) rs879255693
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.667A>G (p.Arg223Gly) rs672601319
NM_014191.4(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NP_055006.1(SCN8A):p.Pro1428_Lys1473del

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