ClinVar Miner

List of variants in gene SCN8A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001330260.2(SCN8A):c.2109T>C (p.Val703=) rs369029348 0.00033
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00026
NM_001330260.2(SCN8A):c.4969C>T (p.Leu1657=) rs374755275 0.00023
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742 0.00016
NM_001330260.2(SCN8A):c.2394G>A (p.Ala798=) rs201392695 0.00014
NM_001330260.2(SCN8A):c.5046C>T (p.Ile1682=) rs376759643 0.00011
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221 0.00011
NM_001330260.2(SCN8A):c.3423A>G (p.Pro1141=) rs376102810 0.00008
NM_001330260.2(SCN8A):c.1149C>T (p.Ala383=) rs201402959 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.858A>T (p.Ile286=) rs370911858 0.00006
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=) rs764790057 0.00003
NM_001330260.2(SCN8A):c.4770C>T (p.Phe1590=) rs368421269 0.00003
NM_001330260.2(SCN8A):c.5271C>T (p.Val1757=) rs752174650 0.00003
NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val) rs202187894 0.00003
NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp) rs760444517 0.00003
NM_001330260.2(SCN8A):c.1350G>A (p.Ala450=) rs779130227 0.00002
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001330260.2(SCN8A):c.2002A>G (p.Thr668Ala) rs556325115 0.00002
NM_001330260.2(SCN8A):c.2691T>C (p.Phe897=) rs1057519119 0.00002
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_001330260.2(SCN8A):c.340A>G (p.Ile114Val) rs527246057 0.00002
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001330260.2(SCN8A):c.1131A>G (p.Gln377=) rs750815202 0.00001
NM_001330260.2(SCN8A):c.1566T>C (p.Asp522=) rs768201816 0.00001
NM_001330260.2(SCN8A):c.1737C>T (p.Ser579=) rs770853019 0.00001
NM_001330260.2(SCN8A):c.1908C>T (p.Ser636=) rs1053543226 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.3044T>C (p.Val1015Ala) rs1423546979 0.00001
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930 0.00001
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=) rs372155701 0.00001
NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=) rs751637843 0.00001
NM_001330260.2(SCN8A):c.1118A>G (p.Glu373Gly) rs1555219158
NM_001330260.2(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_001330260.2(SCN8A):c.1402G>A (p.Glu468Lys) rs1555219703
NM_001330260.2(SCN8A):c.1541A>G (p.Lys514Arg) rs1592393860
NM_001330260.2(SCN8A):c.1603A>T (p.Arg535Ter) rs1555219864
NM_001330260.2(SCN8A):c.1661C>T (p.Pro554Leu)
NM_001330260.2(SCN8A):c.1717C>A (p.Arg573=) rs370074236
NM_001330260.2(SCN8A):c.1829G>T (p.Arg610Leu) rs1438139623
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1884C>T (p.Arg628=) rs1387548452
NM_001330260.2(SCN8A):c.1941C>T (p.Gly647=)
NM_001330260.2(SCN8A):c.2188T>C (p.Phe730Leu) rs923938885
NM_001330260.2(SCN8A):c.2301A>G (p.Thr767=)
NM_001330260.2(SCN8A):c.2359G>A (p.Val787Ile) rs1178470597
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2654T>C (p.Ile885Thr) rs1942829127
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
NM_001330260.2(SCN8A):c.2926C>T (p.Leu976Phe) rs1942877999
NM_001330260.2(SCN8A):c.2966A>T (p.Asp989Val) rs1942878597
NM_001330260.2(SCN8A):c.307C>A (p.Leu103Ile) rs1941382009
NM_001330260.2(SCN8A):c.3137C>A (p.Ala1046Asp) rs1344073985
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala) rs2138868637
NM_001330260.2(SCN8A):c.3229T>C (p.Tyr1077His)
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001330260.2(SCN8A):c.345A>C (p.Leu115Phe)
NM_001330260.2(SCN8A):c.3487G>A (p.Glu1163Lys) rs1555226298
NM_001330260.2(SCN8A):c.3490+3G>A rs1592152117
NM_001330260.2(SCN8A):c.3510G>A (p.Lys1170=)
NM_001330260.2(SCN8A):c.3512G>A (p.Cys1171Tyr) rs2138871534
NM_001330260.2(SCN8A):c.3651C>T (p.Phe1217=)
NM_001330260.2(SCN8A):c.3945G>A (p.Val1315=) rs1555228304
NM_001330260.2(SCN8A):c.4182C>A (p.Ile1394=) rs1938099830
NM_001330260.2(SCN8A):c.4357TTC[1] (p.Phe1454del) rs2138909604
NM_001330260.2(SCN8A):c.439G>A (p.Val147Ile)
NM_001330260.2(SCN8A):c.4412A>T (p.Lys1471Met) rs1057519120
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4496A>G (p.Lys1499Arg) rs1938216429
NM_001330260.2(SCN8A):c.4575C>G (p.Asp1525Glu)
NM_001330260.2(SCN8A):c.4594A>G (p.Ile1532Val) rs1555229496
NM_001330260.2(SCN8A):c.4629A>G (p.Thr1543=)
NM_001330260.2(SCN8A):c.4683_4686del (p.Phe1561fs)
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met) rs1565929209
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4861T>C (p.Leu1621=) rs2138942326
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_001330260.2(SCN8A):c.4870A>G (p.Ile1624Val) rs2138942352
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys) rs2138942373
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.4983C>T (p.Val1661=) rs1938705533
NM_001330260.2(SCN8A):c.5013C>T (p.Ser1671=)
NM_001330260.2(SCN8A):c.5149C>T (p.Arg1717Cys)
NM_001330260.2(SCN8A):c.5179C>A (p.His1727Asn)
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln) rs1057519190
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5561G>A (p.Arg1854Gln)
NM_001330260.2(SCN8A):c.5575A>G (p.Ser1859Gly) rs1938722293
NM_001330260.2(SCN8A):c.5593C>G (p.Leu1865Val) rs1288157626
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_001330260.2(SCN8A):c.5694T>A (p.Ser1898=)
NM_001330260.2(SCN8A):c.5769T>C (p.Asn1923=)
NM_001330260.2(SCN8A):c.5840A>G (p.Tyr1947Cys)
NM_001330260.2(SCN8A):c.614C>T (p.Ala205Val) rs796053233
NM_001330260.2(SCN8A):c.653C>A (p.Ala218Glu)
NM_001330260.2(SCN8A):c.752T>G (p.Leu251Arg) rs1941649906
NM_001330260.2(SCN8A):c.802A>T (p.Ile268Phe) rs1085308013
NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_001330260.2(SCN8A):c.859A>C (p.Asn287His) rs2138735873
NM_001330260.2(SCN8A):c.892_894dup (p.Lys298_Gly299insLys)
NM_001330260.2(SCN8A):c.896G>A (p.Gly299Asp)
NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser) rs1057519557
NM_001330260.2(SCN8A):c.979A>C (p.Ser327Arg) rs776048628
NM_014191.4(SCN8A):c.655C>G (p.Leu219Val)
NM_014191.4(SCN8A):c.706+1G>A rs2138716241

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