ClinVar Miner

List of variants in gene SCN8A reported as pathogenic for epilepsy

Included ClinVar conditions (435):
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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1339C>T (p.Gln447Ter) rs1060501012 0.00001
NC_000012.12:g.(?_51684154)_(51701227_?)del
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr) rs1941714399
NM_001330260.2(SCN8A):c.1498C>T (p.Gln500Ter)
NM_001330260.2(SCN8A):c.1511_1512del (p.Leu503_Ser504insTer) rs2138750473
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_001330260.2(SCN8A):c.1967del (p.Gly656fs)
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2364_2370+1del rs2138838820
NM_001330260.2(SCN8A):c.2486_2489delinsCCATTA (p.Leu829fs) rs1592148206
NM_001330260.2(SCN8A):c.2534C>G (p.Ser845Cys)
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2539C>T (p.Arg847Ter) rs1555225532
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2617G>A (p.Gly873Ser) rs1942828530
NM_001330260.2(SCN8A):c.2617G>C (p.Gly873Arg)
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
NM_001330260.2(SCN8A):c.2654T>C (p.Ile885Thr) rs1942829127
NM_001330260.2(SCN8A):c.2671G>A (p.Val891Met) rs1592149793
NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2791C>T (p.Arg931Ter)
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe) rs774522197
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.2942G>T (p.Ser981Ile)
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.3350C>A (p.Ser1117Ter)
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3664_3719dup (p.Tyr1241fs) rs2138878910
NM_001330260.2(SCN8A):c.3925C>T (p.Arg1309Ter)
NM_001330260.2(SCN8A):c.3943G>A (p.Val1315Met) rs1555228303
NM_001330260.2(SCN8A):c.3943G>T (p.Val1315Leu) rs1555228303
NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala) rs1592162415
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser) 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.3995T>C (p.Leu1332Pro) rs2138904112
NM_001330260.2(SCN8A):c.4049C>T (p.Ala1350Val) rs1592162506
NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs) rs2138904272
NM_001330260.2(SCN8A):c.4122_4123del (p.Glu1375fs) rs2138904397
NM_001330260.2(SCN8A):c.417G>A (p.Met139Ile) rs1565886685
NM_001330260.2(SCN8A):c.4245G>A (p.Trp1415Ter) rs1555228669
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4304_4305del (p.Glu1435fs)
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4377C>G (p.Phe1459Leu)
NM_001330260.2(SCN8A):c.4384G>A (p.Val1462Ile) rs2138909650
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.4397A>G (p.Asn1466Ser) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4398C>G (p.Asn1466Lys)
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr) rs1938214529
NM_001330260.2(SCN8A):c.4438T>G (p.Phe1480Val)
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) rs1938214882
NM_001330260.2(SCN8A):c.4445C>A (p.Thr1482Asn)
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.4487G>A (p.Gly1496Asp) rs762777153
NM_001330260.2(SCN8A):c.4568C>A (p.Ala1523Asp) rs2138919071
NM_001330260.2(SCN8A):c.4583T>A (p.Ile1528Asn) rs2138919119
NM_001330260.2(SCN8A):c.4586dup (p.Met1529fs) rs2138919129
NM_001330260.2(SCN8A):c.4605_4606del (p.Met1536fs) rs2138919187
NM_001330260.2(SCN8A):c.4613C>A (p.Thr1538Lys) rs2138919240
NM_001330260.2(SCN8A):c.4651dup (p.Glu1551fs) rs2138919307
NM_001330260.2(SCN8A):c.4774G>T (p.Val1592Leu)
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4863G>C (p.Leu1621Phe)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.4893C>G (p.Ile1631Met)
NM_001330260.2(SCN8A):c.4934T>G (p.Met1645Arg)
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5282A>G (p.Tyr1761Cys)
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.5594T>C (p.Leu1865Pro)
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
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.5633C>G (p.Pro1878Arg)
NM_001330260.2(SCN8A):c.5640A>C (p.Lys1880Asn) rs1938725748
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_001330260.2(SCN8A):c.727G>T (p.Ala243Ser) rs2138735536
NM_001330260.2(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_001330260.2(SCN8A):c.929-2A>G
NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp) rs879255695
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser) rs1592380672
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu) rs1592380699
NP_055006.1(SCN8A):p.Pro1428_Lys1473del

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