ClinVar Miner

List of variants in gene SCN8A reported as likely pathogenic for not provided

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1099A>G (p.Met367Val) rs796053209
NM_001330260.2(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_001330260.2(SCN8A):c.1168T>A (p.Phe390Ile) rs2138748076
NM_001330260.2(SCN8A):c.1214T>G (p.Leu405Trp)
NM_001330260.2(SCN8A):c.1219T>A (p.Leu407Met) rs1555219495
NM_001330260.2(SCN8A):c.1342-3T>G rs1131691459
NM_001330260.2(SCN8A):c.1603A>T (p.Arg535Ter) rs1555219864
NM_001330260.2(SCN8A):c.1759G>T (p.Glu587Ter) rs1131691327
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2533T>C (p.Ser845Pro) rs1057518356
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_001330260.2(SCN8A):c.2540G>A (p.Arg847Gln)
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2675T>C (p.Val892Ala)
NM_001330260.2(SCN8A):c.2792G>A (p.Arg931Gln) rs2138862977
NM_001330260.2(SCN8A):c.2827dup (p.Asp943fs) rs1592149876
NM_001330260.2(SCN8A):c.3440del (p.Pro1147fs) rs2138870280
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3739A>T (p.Met1247Leu)
NM_001330260.2(SCN8A):c.3943G>T (p.Val1315Leu) rs1555228303
NM_001330260.2(SCN8A):c.396-1C>T
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3985A>G (p.Asn1329Asp) rs794727362
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4378A>G (p.Ile1460Val) rs2138909633
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4411A>C (p.Lys1471Gln) rs1057521767
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4465T>C (p.Tyr1489His)
NM_001330260.2(SCN8A):c.4501C>A (p.Gln1501Lys) rs1057520149
NM_001330260.2(SCN8A):c.4585A>G (p.Met1529Val) rs2138919124
NM_001330260.2(SCN8A):c.4849C>T (p.Arg1617Ter) rs770166890
NM_001330260.2(SCN8A):c.4867C>T (p.Arg1623Cys) rs867420193
NM_001330260.2(SCN8A):c.4873G>T (p.Gly1625Trp) rs879255708
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys) rs2138942373
NM_001330260.2(SCN8A):c.4879A>C (p.Ile1627Leu) rs1131691414
NM_001330260.2(SCN8A):c.4883T>G (p.Leu1628Trp) rs1555230928
NM_001330260.2(SCN8A):c.4892T>A (p.Ile1631Asn) rs1085307999
NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys) rs1938703307
NM_001330260.2(SCN8A):c.4916C>T (p.Thr1639Ile) rs2138942509
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val) rs1938703803
NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu) rs796053223
NM_001330260.2(SCN8A):c.497C>T (p.Thr166Ile) rs1057520361
NM_001330260.2(SCN8A):c.5110T>A (p.Ser1704Thr) rs2138942888
NM_001330260.2(SCN8A):c.5156dup (p.Pro1719_Asp1720insTer) rs2138942971
NM_001330260.2(SCN8A):c.5157del (p.Asp1720fs) rs2138943001
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5636C>T (p.Ser1879Phe)
NM_001330260.2(SCN8A):c.5638A>G (p.Lys1880Glu) rs1555231128
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_001330260.2(SCN8A):c.614C>T (p.Ala205Val) rs796053233
NM_001330260.2(SCN8A):c.653C>A (p.Ala218Glu)
NM_001330260.2(SCN8A):c.669G>C (p.Arg223Ser) rs2138716709
NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_001330260.2(SCN8A):c.769C>G (p.Leu257Val) rs1064794782
NM_001330260.2(SCN8A):c.802A>C (p.Ile268Leu) rs1085308013
NM_001330260.2(SCN8A):c.802A>T (p.Ile268Phe) rs1085308013
NM_001330260.2(SCN8A):c.805G>A (p.Gly269Arg) rs1555218644
NM_001330260.2(SCN8A):c.979A>C (p.Ser327Arg) rs776048628
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694
NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro) rs1064794715
NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser) rs1592380672
NM_014191.4(SCN8A):c.706+1G>A rs2138716241

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