ClinVar Miner

List of variants in gene SCN8A reported as pathogenic

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Total variants: 68
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HGVS dbSNP
NM_001330260.2(SCN8A):c.1118A>G (p.Glu373Gly) rs1555219158
NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe) rs879255698
NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791
NM_001330260.2(SCN8A):c.2023_2029dup (p.Gly677fs) rs1565908565
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2460dup (p.Asp821Ter) rs1565915356
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln) rs879255701
NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr) rs879255702
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_001330260.2(SCN8A):c.2930T>C (p.Leu977Pro) rs1555226079
NM_001330260.2(SCN8A):c.2936C>T (p.Ser979Phe) rs1555226081
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys) rs1555226823
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.4189_4208del (p.Asp1397fs) rs1565925940
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val) rs1135401806
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4438T>A (p.Phe1480Ile) rs796053218
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val) rs879255706
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp) rs1555230924
NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg) rs879255708
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.4949C>T (p.Ala1650Val) rs796053224
NM_001330260.2(SCN8A):c.5156C>G (p.Pro1719Arg) rs1565934070
NM_001330260.2(SCN8A):c.5156_5157del (p.Pro1719fs) rs587776703
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp) rs879255711
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.615-195A>G rs672601319
NM_001330260.2(SCN8A):c.615-215T>A rs879255696
NM_001330260.2(SCN8A):c.615-219A>G rs879255695
NM_001330260.2(SCN8A):c.615-221G>A rs879255694
NM_001330260.2(SCN8A):c.615-233T>C rs879255693
NM_001330260.2(SCN8A):c.718A>C (p.Ile240Leu) rs1064793923
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_014191.4(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln)
NM_014191.4(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_014191.4(SCN8A):c.4419+1A>G rs1064793722
NM_014191.4(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla)
NM_014191.4(SCN8A):c.5594T>C (p.Leu1865Pro)
NM_014191.4(SCN8A):c.752T>G (p.Leu251Arg)
NM_014191.4(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
NP_055006.1(SCN8A):p.Pro1428_Lys1473del

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