ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 648
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742 0.00016
NM_001330260.2(SCN8A):c.1954A>G (p.Ile652Val) rs1048609401 0.00010
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001330260.2(SCN8A):c.2281A>G (p.Ile761Val) rs544063018 0.00004
NM_001330260.2(SCN8A):c.3061G>C (p.Ala1021Pro) rs781237471 0.00004
NM_001330260.2(SCN8A):c.3373-8G>A rs1275858718 0.00004
NM_001330260.2(SCN8A):c.3530A>G (p.Glu1177Gly) rs560509683 0.00004
NM_001330260.2(SCN8A):c.5735G>A (p.Arg1912Lys) rs764108136 0.00004
NM_001330260.2(SCN8A):c.2951A>G (p.Asn984Ser) rs373040746 0.00003
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His) rs528718802 0.00003
NM_001330260.2(SCN8A):c.3503G>A (p.Arg1168Gln) rs763817893 0.00003
NM_001330260.2(SCN8A):c.3769G>A (p.Val1257Ile) rs750829844 0.00003
NM_001330260.2(SCN8A):c.4134G>T (p.Lys1378Asn) rs752899010 0.00003
NM_001330260.2(SCN8A):c.4678G>A (p.Val1560Met) rs764328953 0.00003
NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp) rs760444517 0.00003
NM_014191.4(SCN8A):c.619A>G (p.Ile207Val) rs767123396 0.00003
NM_001330260.2(SCN8A):c.1136C>T (p.Thr379Ile) rs761124273 0.00002
NM_001330260.2(SCN8A):c.1349C>T (p.Ala450Val) rs755154133 0.00002
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383 0.00002
NM_001330260.2(SCN8A):c.1707G>C (p.Arg569Ser) rs267603508 0.00002
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro) rs753009673 0.00002
NM_001330260.2(SCN8A):c.2002A>G (p.Thr668Ala) rs556325115 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.3808C>T (p.Leu1270Phe) rs1375638748 0.00002
NM_001330260.2(SCN8A):c.3839T>C (p.Ile1280Thr) rs766666711 0.00002
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263 0.00002
NM_001330260.2(SCN8A):c.5458C>A (p.Arg1820=) rs747526439 0.00002
NM_001330260.2(SCN8A):c.5662A>T (p.Thr1888Ser) rs748964384 0.00002
NM_001330260.2(SCN8A):c.5794C>T (p.Arg1932Trp) rs773966403 0.00002
NM_001330260.2(SCN8A):c.1084G>T (p.Ala362Ser) rs1592390497 0.00001
NM_001330260.2(SCN8A):c.1165A>T (p.Ile389Phe) rs1334454056 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.1411G>A (p.Gly471Arg) rs748156622 0.00001
NM_001330260.2(SCN8A):c.1423C>T (p.Arg475Trp) rs771577480 0.00001
NM_001330260.2(SCN8A):c.1439T>C (p.Ile480Thr) rs1159903256 0.00001
NM_001330260.2(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392 0.00001
NM_001330260.2(SCN8A):c.1474C>T (p.Arg492Cys) rs576362165 0.00001
NM_001330260.2(SCN8A):c.1504G>A (p.Glu502Lys) rs201487381 0.00001
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val) rs1022856027 0.00001
NM_001330260.2(SCN8A):c.1792C>T (p.Arg598Trp) rs1064796357 0.00001
NM_001330260.2(SCN8A):c.1801C>T (p.Leu601Phe) rs1374989397 0.00001
NM_001330260.2(SCN8A):c.1814T>C (p.Ile605Thr) rs960926390 0.00001
NM_001330260.2(SCN8A):c.1817G>A (p.Arg606Gln) rs1359860813 0.00001
NM_001330260.2(SCN8A):c.1828C>A (p.Arg610Ser) rs917515945 0.00001
NM_001330260.2(SCN8A):c.1832G>A (p.Arg611Gln) rs866054004 0.00001
NM_001330260.2(SCN8A):c.1837A>G (p.Ser613Gly) rs749121003 0.00001
NM_001330260.2(SCN8A):c.1874G>A (p.Arg625His) rs765763546 0.00001
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330260.2(SCN8A):c.1883G>C (p.Arg628Pro) rs763701191 0.00001
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791 0.00001
NM_001330260.2(SCN8A):c.2042T>A (p.Leu681His) rs769132740 0.00001
NM_001330260.2(SCN8A):c.2058C>G (p.Asp686Glu) rs1208300274 0.00001
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg) rs1037521613 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.2188T>G (p.Phe730Val) rs923938885 0.00001
NM_001330260.2(SCN8A):c.2290G>A (p.Val764Ile) rs1229931495 0.00001
NM_001330260.2(SCN8A):c.2389A>G (p.Thr797Ala) rs1482268495 0.00001
NM_001330260.2(SCN8A):c.2403C>G (p.Phe801Leu) rs748828215 0.00001
NM_001330260.2(SCN8A):c.2415A>G (p.Ile805Met) rs1280217170 0.00001
NM_001330260.2(SCN8A):c.2721G>C (p.Lys907Asn) rs1038198905 0.00001
NM_001330260.2(SCN8A):c.296G>C (p.Arg99Thr) rs370578497 0.00001
NM_001330260.2(SCN8A):c.3008G>A (p.Arg1003His) rs752402332 0.00001
NM_001330260.2(SCN8A):c.3040A>G (p.Lys1014Glu) rs1019969857 0.00001
NM_001330260.2(SCN8A):c.3044T>C (p.Val1015Ala) rs1423546979 0.00001
NM_001330260.2(SCN8A):c.3129C>G (p.Asn1043Lys) rs199680789 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3140A>G (p.Asn1047Ser) rs762469719 0.00001
NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val) rs376547086 0.00001
NM_001330260.2(SCN8A):c.3161A>C (p.His1054Pro) rs1060501009 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.3230A>G (p.Tyr1077Cys) rs746302474 0.00001
NM_001330260.2(SCN8A):c.3256T>C (p.Phe1086Leu) rs1395703313 0.00001
NM_001330260.2(SCN8A):c.3269C>T (p.Pro1090Leu) rs767071719 0.00001
NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=) rs745966369 0.00001
NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102 0.00001
NM_001330260.2(SCN8A):c.3364A>T (p.Ser1122Cys) rs554826191 0.00001
NM_001330260.2(SCN8A):c.3372T>G (p.Asp1124Glu) rs574382050 0.00001
NM_001330260.2(SCN8A):c.3496G>A (p.Val1166Ile) rs376406345 0.00001
NM_001330260.2(SCN8A):c.363A>G (p.Ile121Met) rs752190543 0.00001
NM_001330260.2(SCN8A):c.3722A>G (p.Tyr1241Cys) rs796053213 0.00001
NM_001330260.2(SCN8A):c.372A>G (p.Ile124Met) rs574226931 0.00001
NM_001330260.2(SCN8A):c.3761A>G (p.Tyr1254Cys) rs1199744177 0.00001
NM_001330260.2(SCN8A):c.396-3T>C rs752458453 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396 0.00001
NM_001330260.2(SCN8A):c.4722T>G (p.Phe1574Leu) rs1377093609 0.00001
NM_001330260.2(SCN8A):c.4724C>T (p.Ala1575Val) rs182326351 0.00001
NM_001330260.2(SCN8A):c.4739A>G (p.Tyr1580Cys) rs1326992524 0.00001
NM_001330260.2(SCN8A):c.4780A>C (p.Ile1594Leu) rs752829853 0.00001
NM_001330260.2(SCN8A):c.5035G>A (p.Glu1679Lys) rs796053225 0.00001
NM_001330260.2(SCN8A):c.508A>T (p.Thr170Ser) rs763847342 0.00001
NM_001330260.2(SCN8A):c.520C>G (p.Leu174Val) rs1941432036 0.00001
NM_001330260.2(SCN8A):c.5491G>A (p.Ala1831Thr) rs767305170 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp) rs1230372504 0.00001
NM_001330260.2(SCN8A):c.5687A>G (p.Glu1896Gly) rs761793809 0.00001
NM_001330260.2(SCN8A):c.5710C>T (p.Arg1904Cys) rs367984544 0.00001
NM_001330260.2(SCN8A):c.5711G>A (p.Arg1904His) rs142069713 0.00001
NM_001330260.2(SCN8A):c.5720G>A (p.Arg1907Gln) rs1442612004 0.00001
NM_001330260.2(SCN8A):c.5786G>C (p.Gly1929Ala) rs748909364 0.00001
NM_001330260.2(SCN8A):c.5809A>C (p.Ser1937Arg) rs796053230 0.00001
NM_001330260.2(SCN8A):c.5836T>A (p.Ser1946Thr) rs376076659 0.00001
NM_001330260.2(SCN8A):c.5878C>T (p.Arg1960Trp) rs1021136260 0.00001
NM_001330260.2(SCN8A):c.5890G>A (p.Gly1964Arg) rs756678417 0.00001
NM_001330260.2(SCN8A):c.5938T>A (p.Cys1980Ser) rs1322359113 0.00001
NM_001330260.2(SCN8A):c.615-151G>T rs1941461790 0.00001
NM_001330260.2(SCN8A):c.706+1G>A rs1259864188 0.00001
NM_001330260.2(SCN8A):c.902A>G (p.Asp301Gly) rs368726668 0.00001
NM_001330260.2(SCN8A):c.996A>G (p.Gln332=) rs1057522020 0.00001
NC_000012.12:g.(?_51780629)_(51780791_?)del
NM_001330260.2(SCN8A):c.1014G>T (p.Gln338His)
NM_001330260.2(SCN8A):c.1020G>A (p.Met340Ile)
NM_001330260.2(SCN8A):c.1080C>G (p.Phe360Leu) rs1941714033
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1101G>A (p.Met367Ile) rs1555219147
NM_001330260.2(SCN8A):c.1125G>T (p.Leu375Phe)
NM_001330260.2(SCN8A):c.1174G>A (p.Val392Ile)
NM_001330260.2(SCN8A):c.1193G>C (p.Gly398Ala) rs1941767862
NM_001330260.2(SCN8A):c.1200C>G (p.Phe400Leu) rs2138748176
NM_001330260.2(SCN8A):c.1229T>C (p.Val410Ala) rs2138748264
NM_001330260.2(SCN8A):c.1241A>T (p.Tyr414Phe) rs794727000
NM_001330260.2(SCN8A):c.1243G>A (p.Glu415Lys) rs1555219509
NM_001330260.2(SCN8A):c.1252A>G (p.Asn418Asp) rs1941769135
NM_001330260.2(SCN8A):c.1265T>A (p.Leu422Gln)
NM_001330260.2(SCN8A):c.1319A>G (p.Lys440Arg) rs1003938127
NM_001330260.2(SCN8A):c.1341+4G>A
NM_001330260.2(SCN8A):c.1342-18C>G
NM_001330260.2(SCN8A):c.1367G>A (p.Gly456Glu) rs1592393570
NM_001330260.2(SCN8A):c.1382A>T (p.Asp461Val)
NM_001330260.2(SCN8A):c.1387A>G (p.Ile463Val)
NM_001330260.2(SCN8A):c.1390G>A (p.Glu464Lys)
NM_001330260.2(SCN8A):c.1393G>A (p.Glu465Lys)
NM_001330260.2(SCN8A):c.1400G>C (p.Gly467Ala) rs1398266993
NM_001330260.2(SCN8A):c.1401_1409del (p.465EEG[1])
NM_001330260.2(SCN8A):c.1406A>G (p.Glu469Gly)
NM_001330260.2(SCN8A):c.1414G>T (p.Gly472Cys) rs1298177137
NM_001330260.2(SCN8A):c.1415G>A (p.Gly472Asp) rs758546871
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001330260.2(SCN8A):c.1421C>T (p.Pro474Leu)
NM_001330260.2(SCN8A):c.1426A>C (p.Ser476Arg) rs1060501008
NM_001330260.2(SCN8A):c.1447C>G (p.Leu483Val)
NM_001330260.2(SCN8A):c.1447C>T (p.Leu483Phe)
NM_001330260.2(SCN8A):c.1468G>C (p.Glu490Gln) rs1555219752
NM_001330260.2(SCN8A):c.1474C>A (p.Arg492Ser)
NM_001330260.2(SCN8A):c.1493G>C (p.Arg498Thr) rs1941788258
NM_001330260.2(SCN8A):c.1507C>T (p.Leu503Phe)
NM_001330260.2(SCN8A):c.1520A>C (p.Glu507Ala) rs371383623
NM_001330260.2(SCN8A):c.1541A>G (p.Lys514Arg) rs1592393860
NM_001330260.2(SCN8A):c.1570A>G (p.Met524Val) rs886042925
NM_001330260.2(SCN8A):c.1571T>C (p.Met524Thr) rs2138750677
NM_001330260.2(SCN8A):c.1572G>T (p.Met524Ile)
NM_001330260.2(SCN8A):c.1580A>G (p.Lys527Arg)
NM_001330260.2(SCN8A):c.1581G>T (p.Lys527Asn)
NM_001330260.2(SCN8A):c.1583C>A (p.Ala528Asp)
NM_001330260.2(SCN8A):c.1598A>G (p.Asp533Gly)
NM_001330260.2(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_001330260.2(SCN8A):c.1635+3_1635+7del
NM_001330260.2(SCN8A):c.1635+5A>T
NM_001330260.2(SCN8A):c.1637C>T (p.Ser546Leu)
NM_001330260.2(SCN8A):c.1655G>C (p.Gly552Ala) rs957905474
NM_001330260.2(SCN8A):c.1657T>C (p.Ser553Pro) rs2138782066
NM_001330260.2(SCN8A):c.1666C>T (p.Leu556Phe)
NM_001330260.2(SCN8A):c.1670C>G (p.Ser557Cys)
NM_001330260.2(SCN8A):c.1672C>T (p.Arg558Cys)
NM_001330260.2(SCN8A):c.1687A>G (p.Ser563Gly) rs1565899709
NM_001330260.2(SCN8A):c.1691G>A (p.Ser564Asn) rs1592405696
NM_001330260.2(SCN8A):c.1695C>G (p.Ile565Met) rs1239406541
NM_001330260.2(SCN8A):c.1715G>A (p.Gly572Glu) rs1085307867
NM_001330260.2(SCN8A):c.1717C>T (p.Arg573Trp) rs370074236
NM_001330260.2(SCN8A):c.1721T>G (p.Phe574Cys)
NM_001330260.2(SCN8A):c.1722C>G (p.Phe574Leu)
NM_001330260.2(SCN8A):c.1730C>A (p.Pro577Gln) rs373820887
NM_001330260.2(SCN8A):c.1774GAG[1] (p.Glu593del) rs1942065333
NM_001330260.2(SCN8A):c.1787G>A (p.Gly596Asp) rs879267224
NM_001330260.2(SCN8A):c.1810C>A (p.Pro604Thr)
NM_001330260.2(SCN8A):c.1814T>A (p.Ile605Asn)
NM_001330260.2(SCN8A):c.1822C>T (p.Arg608Cys)
NM_001330260.2(SCN8A):c.1823G>A (p.Arg608His) rs371644624
NM_001330260.2(SCN8A):c.1825G>A (p.Glu609Lys)
NM_001330260.2(SCN8A):c.1832G>C (p.Arg611Pro) rs866054004
NM_001330260.2(SCN8A):c.1837_1845del (p.Ser613_Ser615del)
NM_001330260.2(SCN8A):c.1841A>G (p.Tyr614Cys)
NM_001330260.2(SCN8A):c.1846GGCTACAGC[3] (p.616GYS[3]) rs758276968
NM_001330260.2(SCN8A):c.1849T>C (p.Tyr617His) rs773608650
NM_001330260.2(SCN8A):c.1873C>A (p.Arg625Ser) rs912580884
NM_001330260.2(SCN8A):c.1876T>A (p.Ser626Thr)
NM_001330260.2(SCN8A):c.1883G>T (p.Arg628Leu)
NM_001330260.2(SCN8A):c.1885A>G (p.Ile629Val)
NM_001330260.2(SCN8A):c.1886T>C (p.Ile629Thr) rs2138782988
NM_001330260.2(SCN8A):c.1896C>A (p.Ser632Arg)
NM_001330260.2(SCN8A):c.1901G>T (p.Arg634Leu)
NM_001330260.2(SCN8A):c.1903C>T (p.Arg635Cys)
NM_001330260.2(SCN8A):c.1906A>G (p.Ser636Gly)
NM_001330260.2(SCN8A):c.1908C>G (p.Ser636Arg)
NM_001330260.2(SCN8A):c.1916G>A (p.Arg639His)
NM_001330260.2(SCN8A):c.1918A>G (p.Asn640Asp) rs2138783101
NM_001330260.2(SCN8A):c.1919A>C (p.Asn640Thr) rs1332024650
NM_001330260.2(SCN8A):c.1925C>T (p.Thr642Met)
NM_001330260.2(SCN8A):c.1928T>C (p.Val643Ala)
NM_001330260.2(SCN8A):c.1937A>G (p.Asn646Ser) rs1565900032
NM_001330260.2(SCN8A):c.1938C>A (p.Asn646Lys) rs186183096
NM_001330260.2(SCN8A):c.1939G>A (p.Gly647Ser)
NM_001330260.2(SCN8A):c.1940G>C (p.Gly647Ala)
NM_001330260.2(SCN8A):c.1942G>C (p.Val648Leu)
NM_001330260.2(SCN8A):c.1952_1972dup (p.Leu651_Ser657dup) rs1942071890
NM_001330260.2(SCN8A):c.1954A>T (p.Ile652Phe)
NM_001330260.2(SCN8A):c.1954_1959dup (p.Gly653_Gly654insIleGly)
NM_001330260.2(SCN8A):c.1957G>A (p.Gly653Ser) rs1020814791
NM_001330260.2(SCN8A):c.1962_1982dup (p.Pro655_Gly661dup) rs768554772
NM_001330260.2(SCN8A):c.1963C>T (p.Pro655Ser) rs954650071
NM_001330260.2(SCN8A):c.1966G>A (p.Gly656Ser)
NM_001330260.2(SCN8A):c.1969T>C (p.Ser657Pro) rs1429377869
NM_001330260.2(SCN8A):c.1970C>G (p.Ser657Cys)
NM_001330260.2(SCN8A):c.1973A>C (p.His658Pro)
NM_001330260.2(SCN8A):c.1973A>G (p.His658Arg)
NM_001330260.2(SCN8A):c.1975A>G (p.Ile659Val)
NM_001330260.2(SCN8A):c.1985G>A (p.Arg662His)
NM_001330260.2(SCN8A):c.1985G>T (p.Arg662Leu) rs776013286
NM_001330260.2(SCN8A):c.1995A>G (p.Pro665=) rs1231370273
NM_001330260.2(SCN8A):c.1998+11A>G
NM_001330260.2(SCN8A):c.1998+17C>T
NM_001330260.2(SCN8A):c.2005A>G (p.Thr669Ala)
NM_001330260.2(SCN8A):c.2010G>C (p.Glu670Asp)
NM_001330260.2(SCN8A):c.2024A>G (p.Lys675Arg)
NM_001330260.2(SCN8A):c.2044T>G (p.Leu682Val)
NM_001330260.2(SCN8A):c.2056G>T (p.Asp686Tyr) rs373073046
NM_001330260.2(SCN8A):c.2059C>G (p.Gln687Glu) rs2138828768
NM_001330260.2(SCN8A):c.2060A>G (p.Gln687Arg)
NM_001330260.2(SCN8A):c.2062T>A (p.Leu688Ile)
NM_001330260.2(SCN8A):c.2069C>T (p.Ser690Phe)
NM_001330260.2(SCN8A):c.2072A>G (p.Tyr691Cys) rs2138828814
NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)
NM_001330260.2(SCN8A):c.2080A>G (p.Lys694Glu)
NM_001330260.2(SCN8A):c.2098A>G (p.Ile700Val) rs187153231
NM_001330260.2(SCN8A):c.2107G>A (p.Val703Ile) rs1592140302
NM_001330260.2(SCN8A):c.2110G>C (p.Val704Leu)
NM_001330260.2(SCN8A):c.2131+3A>G rs1942506871
NM_001330260.2(SCN8A):c.2131+4T>A rs2138829043
NM_001330260.2(SCN8A):c.2132-13T>C
NM_001330260.2(SCN8A):c.2153A>G (p.Lys718Arg) rs1355556670
NM_001330260.2(SCN8A):c.2166C>G (p.Cys722Trp) rs1555224370
NM_001330260.2(SCN8A):c.2171A>G (p.Tyr724Cys) rs1592142754
NM_001330260.2(SCN8A):c.2174A>G (p.Lys725Arg)
NM_001330260.2(SCN8A):c.2174A>T (p.Lys725Ile)
NM_001330260.2(SCN8A):c.2185A>C (p.Thr729Pro) rs1942592830
NM_001330260.2(SCN8A):c.2186C>G (p.Thr729Ser)
NM_001330260.2(SCN8A):c.2188T>C (p.Phe730Leu) rs923938885
NM_001330260.2(SCN8A):c.2194A>G (p.Ile732Val) rs1375877011
NM_001330260.2(SCN8A):c.2245A>G (p.Ile749Val) rs1331549282
NM_001330260.2(SCN8A):c.2251A>G (p.Met751Val) rs1565910814
NM_001330260.2(SCN8A):c.2252T>C (p.Met751Thr)
NM_001330260.2(SCN8A):c.2263G>C (p.Val755Leu) rs2138838632
NM_001330260.2(SCN8A):c.2291T>C (p.Val764Ala)
NM_001330260.2(SCN8A):c.2320C>T (p.His774Tyr) rs1565910864
NM_001330260.2(SCN8A):c.2323C>T (p.His775Tyr)
NM_001330260.2(SCN8A):c.2350G>A (p.Val784Ile) rs1942596077
NM_001330260.2(SCN8A):c.2359G>A (p.Val787Ile) rs1178470597
NM_001330260.2(SCN8A):c.2370+6A>T rs2138838830
NM_001330260.2(SCN8A):c.2393C>T (p.Ala798Val)
NM_001330260.2(SCN8A):c.2398A>G (p.Met800Val)
NM_001330260.2(SCN8A):c.2408A>G (p.Lys803Arg) rs2138857715
NM_001330260.2(SCN8A):c.2413A>G (p.Ile805Val) rs1942777853
NM_001330260.2(SCN8A):c.2417C>T (p.Ala806Val)
NM_001330260.2(SCN8A):c.2428T>C (p.Tyr810His)
NM_001330260.2(SCN8A):c.2448T>A (p.Gly816=)
NM_001330260.2(SCN8A):c.2472T>A (p.Ile824=) rs1942778686
NM_001330260.2(SCN8A):c.2479C>T (p.Leu827Phe)
NM_001330260.2(SCN8A):c.2489T>C (p.Met830Thr)
NM_001330260.2(SCN8A):c.2495T>G (p.Leu832Arg)
NM_001330260.2(SCN8A):c.2509G>A (p.Val837Met) rs2138857855
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_001330260.2(SCN8A):c.2540G>A (p.Arg847Gln)
NM_001330260.2(SCN8A):c.2544+30_2544+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC rs756887880
NM_001330260.2(SCN8A):c.2545-5C>G rs1592149694
NM_001330260.2(SCN8A):c.2551G>C (p.Val851Leu)
NM_001330260.2(SCN8A):c.2558A>G (p.Lys853Arg) rs1942827683
NM_001330260.2(SCN8A):c.2560T>A (p.Leu854Met) rs1942827739
NM_001330260.2(SCN8A):c.2563G>A (p.Ala855Thr) rs1555225784
NM_001330260.2(SCN8A):c.2564C>G (p.Ala855Gly) rs2138862590
NM_001330260.2(SCN8A):c.2572T>G (p.Trp858Gly)
NM_001330260.2(SCN8A):c.2585A>G (p.Asn862Ser) rs2138862625
NM_001330260.2(SCN8A):c.2608A>C (p.Asn870His) rs1942828379
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2635A>G (p.Thr879Ala) rs2138862740
NM_001330260.2(SCN8A):c.2672T>C (p.Val891Ala) rs2138862805
NM_001330260.2(SCN8A):c.2674G>A (p.Val892Met) rs1942829484
NM_001330260.2(SCN8A):c.2675T>C (p.Val892Ala)
NM_001330260.2(SCN8A):c.2708A>C (p.Glu903Ala) rs2138862872
NM_001330260.2(SCN8A):c.2711G>A (p.Cys904Tyr)
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
NM_001330260.2(SCN8A):c.2746C>T (p.Arg916Cys)
NM_001330260.2(SCN8A):c.277-10_277-7del
NM_001330260.2(SCN8A):c.2821A>G (p.Met941Val)
NM_001330260.2(SCN8A):c.2835G>C (p.Met945Ile) rs1942831510
NM_001330260.2(SCN8A):c.2856G>A (p.Met952Ile) rs2138863058
NM_001330260.2(SCN8A):c.2863A>T (p.Ile955Phe)
NM_001330260.2(SCN8A):c.2877G>A (p.Met959Ile) rs2138863091
NM_001330260.2(SCN8A):c.2881A>G (p.Met961Val) rs1942832105
NM_001330260.2(SCN8A):c.2894A>G (p.Asn965Ser)
NM_001330260.2(SCN8A):c.2897T>G (p.Leu966Trp) rs1555225844
NM_001330260.2(SCN8A):c.2901+5G>T rs2138863160
NM_001330260.2(SCN8A):c.291A>G (p.Leu97=)
NM_001330260.2(SCN8A):c.291A>T (p.Leu97Phe) rs2138707920
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.2950_2970del (p.Asn984_Asp990del)
NM_001330260.2(SCN8A):c.2960C>T (p.Ala987Val)
NM_001330260.2(SCN8A):c.2971G>A (p.Asp991Asn) rs80261247
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001330260.2(SCN8A):c.2982G>C (p.Met994Ile)
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.2986A>G (p.Asn996Asp)
NM_001330260.2(SCN8A):c.2988C>G (p.Asn996Lys)
NM_001330260.2(SCN8A):c.3018G>C (p.Lys1006Asn) rs1057317154
NM_001330260.2(SCN8A):c.3023T>G (p.Val1008Gly)
NM_001330260.2(SCN8A):c.3049G>A (p.Ala1017Thr)
NM_001330260.2(SCN8A):c.3049G>T (p.Ala1017Ser) rs751112057
NM_001330260.2(SCN8A):c.3061G>T (p.Ala1021Ser) rs781237471
NM_001330260.2(SCN8A):c.3068T>G (p.Phe1023Cys)
NM_001330260.2(SCN8A):c.3077G>A (p.Arg1026His) rs780010793
NM_001330260.2(SCN8A):c.3077G>T (p.Arg1026Leu)
NM_001330260.2(SCN8A):c.307C>A (p.Leu103Ile) rs1941382009
NM_001330260.2(SCN8A):c.3083C>G (p.Ala1028Gly) rs1942881418
NM_001330260.2(SCN8A):c.3086A>T (p.Asp1029Val)
NM_001330260.2(SCN8A):c.3091G>T (p.Val1031Leu)
NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala) rs1057524300
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
NM_001330260.2(SCN8A):c.3111G>T (p.Leu1037Phe)
NM_001330260.2(SCN8A):c.3124G>A (p.Ala1042Thr)
NM_001330260.2(SCN8A):c.3127A>G (p.Asn1043Asp)
NM_001330260.2(SCN8A):c.3128A>G (p.Asn1043Ser) rs2138868545
NM_001330260.2(SCN8A):c.3133A>G (p.Ile1045Val)
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala) rs2138868637
NM_001330260.2(SCN8A):c.3205G>A (p.Gly1069Ser) rs1064796374
NM_001330260.2(SCN8A):c.3206G>A (p.Gly1069Asp) rs2138868784
NM_001330260.2(SCN8A):c.3206G>T (p.Gly1069Val)
NM_001330260.2(SCN8A):c.3220G>A (p.Val1074Met)
NM_001330260.2(SCN8A):c.322G>A (p.Ala108Thr)
NM_001330260.2(SCN8A):c.3240T>A (p.Asp1080Glu)
NM_001330260.2(SCN8A):c.3246C>A (p.Asp1082Glu)
NM_001330260.2(SCN8A):c.3259A>G (p.Ile1087Val) rs763424705
NM_001330260.2(SCN8A):c.3259A>T (p.Ile1087Phe)
NM_001330260.2(SCN8A):c.3268C>T (p.Pro1090Ser) rs1565918102
NM_001330260.2(SCN8A):c.326C>T (p.Thr109Met) rs375480171
NM_001330260.2(SCN8A):c.3272A>C (p.Asn1091Thr) rs558738676
NM_001330260.2(SCN8A):c.3274T>A (p.Leu1092Met) rs1942886229
NM_001330260.2(SCN8A):c.3275T>G (p.Leu1092Trp)
NM_001330260.2(SCN8A):c.3280G>A (p.Val1094Ile)
NM_001330260.2(SCN8A):c.3283C>T (p.Arg1095Trp)
NM_001330260.2(SCN8A):c.3284G>A (p.Arg1095Gln) rs2138868984
NM_001330260.2(SCN8A):c.3293T>A (p.Ile1098Asn) rs1238494045
NM_001330260.2(SCN8A):c.3298G>A (p.Val1100Met)
NM_001330260.2(SCN8A):c.3303C>T (p.Gly1101=) rs1942886702
NM_001330260.2(SCN8A):c.3331G>C (p.Glu1111Gln)
NM_001330260.2(SCN8A):c.3346G>A (p.Glu1116Lys) rs1555226176
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3370G>A (p.Asp1124Asn) rs1942888203
NM_001330260.2(SCN8A):c.3372+6G>T rs1942888320
NM_001330260.2(SCN8A):c.3377T>A (p.Leu1126Gln) rs977168749
NM_001330260.2(SCN8A):c.3404G>A (p.Ser1135Asn)
NM_001330260.2(SCN8A):c.3409A>G (p.Ile1137Val)
NM_001330260.2(SCN8A):c.340A>C (p.Ile114Leu)
NM_001330260.2(SCN8A):c.3416T>C (p.Ile1139Thr)
NM_001330260.2(SCN8A):c.3421C>A (p.Pro1141Thr)
NM_001330260.2(SCN8A):c.3422C>T (p.Pro1141Leu)
NM_001330260.2(SCN8A):c.3433G>A (p.Glu1145Lys) rs1324401898
NM_001330260.2(SCN8A):c.3436G>A (p.Val1146Ile)
NM_001330260.2(SCN8A):c.3436G>T (p.Val1146Phe)
NM_001330260.2(SCN8A):c.3440C>T (p.Pro1147Leu)
NM_001330260.2(SCN8A):c.3457G>A (p.Glu1153Lys) rs2138870339
NM_001330260.2(SCN8A):c.3466G>A (p.Asp1156Asn) rs777129956
NM_001330260.2(SCN8A):c.3467A>C (p.Asp1156Ala) rs2138870366
NM_001330260.2(SCN8A):c.3475G>A (p.Ala1159Thr) rs2138870403
NM_001330260.2(SCN8A):c.3479G>A (p.Cys1160Tyr) rs1942899278
NM_001330260.2(SCN8A):c.3490+4_3490+8del
NM_001330260.2(SCN8A):c.3502C>T (p.Arg1168Trp)
NM_001330260.2(SCN8A):c.3509A>G (p.Lys1170Arg) rs774163610
NM_001330260.2(SCN8A):c.3512G>A (p.Cys1171Tyr) rs2138871534
NM_001330260.2(SCN8A):c.3524A>G (p.Asn1175Ser) rs1592152427
NM_001330260.2(SCN8A):c.3538C>T (p.Leu1180=) rs2138871616
NM_001330260.2(SCN8A):c.3569C>T (p.Thr1190Ile)
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.3593A>G (p.Asn1198Ser) rs780745536
NM_001330260.2(SCN8A):c.3610A>G (p.Ile1204Val) rs2138871785
NM_001330260.2(SCN8A):c.361A>T (p.Ile121Leu)
NM_001330260.2(SCN8A):c.3621G>C (p.Met1207Ile)
NM_001330260.2(SCN8A):c.362T>A (p.Ile121Lys) rs1941383326
NM_001330260.2(SCN8A):c.3646-10T>A rs1942972709
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys) rs1555226823
NM_001330260.2(SCN8A):c.365G>A (p.Arg122Lys)
NM_001330260.2(SCN8A):c.3685C>T (p.Arg1229Cys)
NM_001330260.2(SCN8A):c.3686G>T (p.Arg1229Leu) rs1020998191
NM_001330260.2(SCN8A):c.368G>A (p.Arg123Lys)
NM_001330260.2(SCN8A):c.3712G>A (p.Val1238Ile) rs1942974112
NM_001330260.2(SCN8A):c.3724A>G (p.Ile1242Val)
NM_001330260.2(SCN8A):c.3811A>G (p.Ile1271Val) rs2138879236
NM_001330260.2(SCN8A):c.3813T>G (p.Ile1271Met)
NM_001330260.2(SCN8A):c.3819T>C (p.Ala1273=)
NM_001330260.2(SCN8A):c.3832A>T (p.Ser1278Cys)
NM_001330260.2(SCN8A):c.3838A>G (p.Ile1280Val)
NM_001330260.2(SCN8A):c.3917C>G (p.Ala1306Gly)
NM_001330260.2(SCN8A):c.3921A>T (p.Leu1307Phe) rs1565923638
NM_001330260.2(SCN8A):c.3926G>A (p.Arg1309Gln) rs201255617
NM_001330260.2(SCN8A):c.3932A>T (p.Glu1311Val)
NM_001330260.2(SCN8A):c.3934G>C (p.Gly1312Arg) rs2138892889
NM_001330260.2(SCN8A):c.3939G>A (p.Met1313Ile) rs1085307546
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001330260.2(SCN8A):c.3942+3A>T
NM_001330260.2(SCN8A):c.3946G>T (p.Val1316Leu) rs2138903944
NM_001330260.2(SCN8A):c.394T>C (p.Ser132Pro)
NM_001330260.2(SCN8A):c.395+4T>C
NM_001330260.2(SCN8A):c.396-9C>A
NM_001330260.2(SCN8A):c.397G>A (p.Val133Ile)
NM_001330260.2(SCN8A):c.3982A>G (p.Met1328Val) rs1938092498
NM_001330260.2(SCN8A):c.3988G>A (p.Val1330Met)
NM_001330260.2(SCN8A):c.4000T>C (p.Cys1334Arg) rs2138904131
NM_001330260.2(SCN8A):c.4064A>G (p.Tyr1355Cys) rs1592162522
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser) rs796053215
NM_001330260.2(SCN8A):c.4088T>C (p.Ile1363Thr) rs1229965891
NM_001330260.2(SCN8A):c.4174G>A (p.Val1392Met) rs770135840
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe) rs2138904598
NM_001330260.2(SCN8A):c.421A>G (p.Thr141Ala) rs1941420783
NM_001330260.2(SCN8A):c.4228-7T>C
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4277G>A (p.Arg1426Gln) rs1057524240
NM_001330260.2(SCN8A):c.4281+6G>A
NM_001330260.2(SCN8A):c.4281+6G>T
NM_001330260.2(SCN8A):c.4282-3C>T
NM_001330260.2(SCN8A):c.4325T>C (p.Ile1442Thr) rs1938177744
NM_001330260.2(SCN8A):c.4342A>C (p.Ile1448Leu) rs1938178108
NM_001330260.2(SCN8A):c.4342A>G (p.Ile1448Val) rs1938178108
NM_001330260.2(SCN8A):c.434A>G (p.Asn145Ser)
NM_001330260.2(SCN8A):c.4382G>T (p.Gly1461Val)
NM_001330260.2(SCN8A):c.4400T>G (p.Phe1467Cys) rs1938179062
NM_001330260.2(SCN8A):c.4411A>C (p.Lys1471Gln) rs1057521767
NM_001330260.2(SCN8A):c.4413G>T (p.Lys1471Asn) rs776485215
NM_001330260.2(SCN8A):c.4419G>A (p.Lys1473=)
NM_001330260.2(SCN8A):c.4420-1C>A
NM_001330260.2(SCN8A):c.4422C>T (p.Phe1474=)
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4426G>T (p.Gly1476Cys)
NM_001330260.2(SCN8A):c.4427G>A (p.Gly1476Asp)
NM_001330260.2(SCN8A):c.4432G>A (p.Asp1478Asn) rs2138911518
NM_001330260.2(SCN8A):c.4435A>C (p.Ile1479Leu) rs796053217
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4444A>G (p.Thr1482Ala)
NM_001330260.2(SCN8A):c.4449A>C (p.Glu1483Asp)
NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr) rs1592164705
NM_001330260.2(SCN8A):c.4474A>G (p.Met1492Val) rs1938215673
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
NM_001330260.2(SCN8A):c.4477A>G (p.Lys1493Glu) rs1060501011
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4516C>T (p.Arg1506Cys)
NM_001330260.2(SCN8A):c.4524+3A>G rs1186875917
NM_001330260.2(SCN8A):c.4553T>C (p.Phe1518Ser) rs2138919037
NM_001330260.2(SCN8A):c.4556T>C (p.Val1519Ala)
NM_001330260.2(SCN8A):c.456T>C (p.Ser152=)
NM_001330260.2(SCN8A):c.4591C>A (p.Leu1531Ile)
NM_001330260.2(SCN8A):c.459C>A (p.Asn153Lys) rs2138711905
NM_001330260.2(SCN8A):c.4606A>C (p.Met1536Leu) rs1938352194
NM_001330260.2(SCN8A):c.4606A>G (p.Met1536Val) rs1938352194
NM_001330260.2(SCN8A):c.4606A>T (p.Met1536Leu) rs1938352194
NM_001330260.2(SCN8A):c.4608G>A (p.Met1536Ile) rs1938352290
NM_001330260.2(SCN8A):c.4608G>C (p.Met1536Ile) rs1938352290
NM_001330260.2(SCN8A):c.4621G>A (p.Val1541Met)
NM_001330260.2(SCN8A):c.4636C>G (p.Gln1546Glu) rs1020370285
NM_001330260.2(SCN8A):c.4638A>T (p.Gln1546His)
NM_001330260.2(SCN8A):c.4669A>G (p.Ile1557Val)
NM_001330260.2(SCN8A):c.4679T>C (p.Val1560Ala)
NM_001330260.2(SCN8A):c.4688T>C (p.Ile1563Thr) rs190254722
NM_001330260.2(SCN8A):c.4688T>G (p.Ile1563Ser) rs190254722
NM_001330260.2(SCN8A):c.4697C>T (p.Thr1566Ile) rs1938354052
NM_001330260.2(SCN8A):c.4704G>T (p.Glu1568Asp) rs1207860967
NM_001330260.2(SCN8A):c.4727T>C (p.Leu1576Ser) rs953377308
NM_001330260.2(SCN8A):c.4747A>G (p.Ile1583Val) rs1321044528
NM_001330260.2(SCN8A):c.4759A>T (p.Ile1587Phe)
NM_001330260.2(SCN8A):c.4770C>G (p.Phe1590Leu)
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met) rs1565929209
NM_001330260.2(SCN8A):c.477G>A (p.Lys159=)
NM_001330260.2(SCN8A):c.477G>T (p.Lys159Asn) rs781190497
NM_001330260.2(SCN8A):c.4780_4782del (p.Ile1594del)
NM_001330260.2(SCN8A):c.4781T>C (p.Ile1594Thr) rs2138919636
NM_001330260.2(SCN8A):c.4794_4795+20dup rs2138919676
NM_001330260.2(SCN8A):c.4798A>G (p.Met1600Val) rs796053221
NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val) rs879255706
NM_001330260.2(SCN8A):c.4814T>C (p.Ile1605Thr) rs2138942209
NM_001330260.2(SCN8A):c.4817T>C (p.Ile1606Thr) rs2138942215
NM_001330260.2(SCN8A):c.4825T>C (p.Tyr1609His) rs2138942236
NM_001330260.2(SCN8A):c.4826A>C (p.Tyr1609Ser)
NM_001330260.2(SCN8A):c.4858C>T (p.Arg1620Ter)
NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu) rs886044328
NM_001330260.2(SCN8A):c.4885C>T (p.Arg1629Cys) rs1592174265
NM_001330260.2(SCN8A):c.4886G>A (p.Arg1629His)
NM_001330260.2(SCN8A):c.4886G>C (p.Arg1629Pro)
NM_001330260.2(SCN8A):c.4889T>C (p.Leu1630Pro) rs796053222
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001330260.2(SCN8A):c.4896A>T (p.Lys1632Asn)
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr) rs996870199
NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys) rs1938703307
NM_001330260.2(SCN8A):c.4916C>G (p.Thr1639Ser)
NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu) rs796053223
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe) rs773587801
NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe) rs1938704933
NM_001330260.2(SCN8A):c.4979T>A (p.Leu1660Gln)
NM_001330260.2(SCN8A):c.497C>T (p.Thr166Ile) rs1057520361
NM_001330260.2(SCN8A):c.4981G>A (p.Val1661Ile)
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser) rs1592174367
NM_001330260.2(SCN8A):c.5025T>A (p.Tyr1675Ter)
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001330260.2(SCN8A):c.5056T>G (p.Phe1686Val)
NM_001330260.2(SCN8A):c.5066A>C (p.Glu1689Ala)
NM_001330260.2(SCN8A):c.5107A>G (p.Thr1703Ala)
NM_001330260.2(SCN8A):c.5129TGC[2] (p.Leu1712del) rs2138942921
NM_001330260.2(SCN8A):c.5138C>A (p.Pro1713His)
NM_001330260.2(SCN8A):c.5149C>G (p.Arg1717Gly) rs1451912147
NM_001330260.2(SCN8A):c.5150G>A (p.Arg1717His)
NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser) rs794727442
NM_001330260.2(SCN8A):c.5155C>G (p.Pro1719Ala) rs1938709746
NM_001330260.2(SCN8A):c.5165G>T (p.Ser1722Ile)
NM_001330260.2(SCN8A):c.5167C>A (p.Leu1723Ile)
NM_001330260.2(SCN8A):c.5167C>G (p.Leu1723Val)
NM_001330260.2(SCN8A):c.5176G>T (p.Glu1726Ter) rs1555230980
NM_001330260.2(SCN8A):c.5225G>C (p.Gly1742Ala) rs2138943188
NM_001330260.2(SCN8A):c.5251A>G (p.Ile1751Val)
NM_001330260.2(SCN8A):c.5266A>G (p.Ile1756Val) rs1592174549
NM_001330260.2(SCN8A):c.5269G>A (p.Val1757Ile) rs1555231008
NM_001330260.2(SCN8A):c.5284A>T (p.Ile1762Phe) rs2138943320
NM_001330260.2(SCN8A):c.5291T>C (p.Ile1764Thr)
NM_001330260.2(SCN8A):c.5298G>A (p.Leu1766=) rs201801330
NM_001330260.2(SCN8A):c.5305T>C (p.Phe1769Leu) rs2138943375
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.5311G>A (p.Val1771Ile)
NM_001330260.2(SCN8A):c.5315C>A (p.Ala1772Asp)
NM_001330260.2(SCN8A):c.5330_5344del (p.Ala1777_Ser1781del)
NM_001330260.2(SCN8A):c.5348A>T (p.Asp1783Val) rs1938715021
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_001330260.2(SCN8A):c.5385C>A (p.Phe1795Leu) rs748215769
NM_001330260.2(SCN8A):c.5389C>T (p.Pro1797Ser)
NM_001330260.2(SCN8A):c.5392G>A (p.Asp1798Asn) rs2138943594
NM_001330260.2(SCN8A):c.5416T>C (p.Cys1806Arg)
NM_001330260.2(SCN8A):c.5428G>C (p.Asp1810His)
NM_001330260.2(SCN8A):c.5430C>A (p.Asp1810Glu) rs1295392795
NM_001330260.2(SCN8A):c.5441C>G (p.Ala1814Gly) rs1938717640
NM_001330260.2(SCN8A):c.5458C>T (p.Arg1820Ter) rs747526439
NM_001330260.2(SCN8A):c.5459G>A (p.Arg1820Gln) rs919754724
NM_001330260.2(SCN8A):c.5480T>C (p.Ile1827Thr) rs1938719619
NM_001330260.2(SCN8A):c.5498A>G (p.Asp1833Gly)
NM_001330260.2(SCN8A):c.5506A>T (p.Met1836Leu) rs202187894
NM_001330260.2(SCN8A):c.5515G>A (p.Gly1839Arg) rs1938720718
NM_001330260.2(SCN8A):c.5522G>A (p.Arg1841His)
NM_001330260.2(SCN8A):c.5522G>C (p.Arg1841Pro) rs1938720909
NM_001330260.2(SCN8A):c.5528A>C (p.His1843Pro)
NM_001330260.2(SCN8A):c.5534T>C (p.Leu1845Ser) rs1555231063
NM_001330260.2(SCN8A):c.5549C>T (p.Ala1850Val) rs1592174793
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.5559G>C (p.Lys1853Asn)
NM_001330260.2(SCN8A):c.5570del (p.Gly1857fs)
NM_001330260.2(SCN8A):c.5582A>G (p.Glu1861Gly) rs2138944042
NM_001330260.2(SCN8A):c.5588A>C (p.Asp1863Ala) rs2138944062
NM_001330260.2(SCN8A):c.5590A>G (p.Ile1864Val) rs1938723095
NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp) rs1938723469
NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln) rs1555231108
NM_001330260.2(SCN8A):c.5603A>C (p.Gln1868Pro)
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5607G>A (p.Met1869Ile) rs1565934425
NM_001330260.2(SCN8A):c.5608del (p.Glu1870fs)
NM_001330260.2(SCN8A):c.5619_5621dup (p.Val1874_Ala1875insVal)
NM_001330260.2(SCN8A):c.5624C>T (p.Ala1875Val)
NM_001330260.2(SCN8A):c.5638A>G (p.Lys1880Glu) rs1555231128
NM_001330260.2(SCN8A):c.5639A>C (p.Lys1880Thr) rs1938725665
NM_001330260.2(SCN8A):c.5640A>C (p.Lys1880Asn) rs1938725748
NM_001330260.2(SCN8A):c.5644T>C (p.Ser1882Pro) rs2138944257
NM_001330260.2(SCN8A):c.5645C>A (p.Ser1882Tyr) rs1592174945
NM_001330260.2(SCN8A):c.5645C>T (p.Ser1882Phe)
NM_001330260.2(SCN8A):c.5648A>G (p.Tyr1883Cys) rs2138944280
NM_001330260.2(SCN8A):c.5650G>A (p.Glu1884Lys)
NM_001330260.2(SCN8A):c.5659A>G (p.Thr1887Ala) rs1592174975
NM_001330260.2(SCN8A):c.5669T>C (p.Leu1890Pro) rs2138944374
NM_001330260.2(SCN8A):c.5671C>T (p.Arg1891Cys)
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_001330260.2(SCN8A):c.5675G>T (p.Arg1892Leu) rs1565934531
NM_001330260.2(SCN8A):c.567T>G (p.Phe189Leu)
NM_001330260.2(SCN8A):c.5696C>T (p.Ala1899Val) rs1938728013
NM_001330260.2(SCN8A):c.5713G>A (p.Ala1905Thr)
NM_001330260.2(SCN8A):c.571C>T (p.Arg191Trp)
NM_001330260.2(SCN8A):c.5722G>A (p.Gly1908Arg)
NM_001330260.2(SCN8A):c.572G>A (p.Arg191Gln) rs1345271275
NM_001330260.2(SCN8A):c.5738G>A (p.Arg1913Gln)
NM_001330260.2(SCN8A):c.5740G>T (p.Gly1914Cys) rs2138944580
NM_001330260.2(SCN8A):c.5741G>A (p.Gly1914Asp)
NM_001330260.2(SCN8A):c.5758A>C (p.Thr1920Pro) rs2138944655
NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala) rs368796221
NM_001330260.2(SCN8A):c.5764T>A (p.Ser1922Thr) rs2138944691
NM_001330260.2(SCN8A):c.5777A>T (p.Glu1926Val)
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln) rs1938732126
NM_001330260.2(SCN8A):c.5795G>A (p.Arg1932Gln) rs371766742
NM_001330260.2(SCN8A):c.5800A>G (p.Lys1934Glu) rs1555231174
NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs) rs2138944836
NM_001330260.2(SCN8A):c.5834C>T (p.Pro1945Leu)
NM_001330260.2(SCN8A):c.5848G>A (p.Val1950Ile)
NM_001330260.2(SCN8A):c.5869_5870insC (p.Lys1957fs) rs867485612
NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter) rs1555231189
NM_001330260.2(SCN8A):c.5879G>T (p.Arg1960Leu)
NM_001330260.2(SCN8A):c.5903G>C (p.Arg1968Thr)
NM_001330260.2(SCN8A):c.5904_5905del (p.Arg1968fs) rs1938738246
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala) rs1565934813
NM_001330260.2(SCN8A):c.5938_5941dup (p.Ter1981LeuextTer?) rs2138945210
NM_001330260.2(SCN8A):c.615-151G>A
NM_001330260.2(SCN8A):c.631G>A (p.Val211Met) rs2138716617
NM_001330260.2(SCN8A):c.635_640del (p.Asp212_Leu213del)
NM_001330260.2(SCN8A):c.638T>C (p.Leu213Pro)
NM_001330260.2(SCN8A):c.640G>A (p.Gly214Ser) rs1555217386
NM_001330260.2(SCN8A):c.641G>A (p.Gly214Asp) rs2138716643
NM_001330260.2(SCN8A):c.647T>C (p.Val216Ala) rs1555217390
NM_001330260.2(SCN8A):c.652G>C (p.Ala218Pro) rs2138716670
NM_001330260.2(SCN8A):c.653C>T (p.Ala218Val)
NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr) rs1592380859
NM_001330260.2(SCN8A):c.685A>G (p.Lys229Glu) rs2138716740
NM_001330260.2(SCN8A):c.689C>T (p.Thr230Ile)
NM_001330260.2(SCN8A):c.706+17A>G rs756313977
NM_001330260.2(SCN8A):c.706+5_706+6del
NM_001330260.2(SCN8A):c.707G>A (p.Gly236Asp) rs1555218603
NM_001330260.2(SCN8A):c.715A>G (p.Thr239Ala)
NM_001330260.2(SCN8A):c.733A>C (p.Ile245Leu)
NM_001330260.2(SCN8A):c.790G>T (p.Val264Phe) rs2138735683
NM_001330260.2(SCN8A):c.791T>C (p.Val264Ala) rs2138735689
NM_001330260.2(SCN8A):c.813G>C (p.Gln271His)
NM_001330260.2(SCN8A):c.826A>G (p.Asn276Asp)
NM_001330260.2(SCN8A):c.833G>A (p.Arg278Gln)
NM_001330260.2(SCN8A):c.847G>A (p.Val283Met) rs775342033
NM_001330260.2(SCN8A):c.868G>A (p.Glu290Lys) rs1555218674
NM_001330260.2(SCN8A):c.898T>C (p.Phe300Leu)
NM_001330260.2(SCN8A):c.923A>G (p.Asn308Ser)
NM_001330260.2(SCN8A):c.949G>A (p.Gly317Ser)
NM_001330260.2(SCN8A):c.955C>A (p.Leu319Met) rs1380654654
NM_001330260.2(SCN8A):c.981T>A (p.Ser327Arg) rs2138739076
NM_001330260.2(SCN8A):c.986A>C (p.Asp329Ala) rs1592389210
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly) rs1592389210
NM_001330260.2(SCN8A):c.993-14CTTT[2] rs1565892528
NM_014191.4(SCN8A):c.630T>G (p.Phe210Leu)
NM_014191.4(SCN8A):c.658C>T (p.Arg220Cys)
NM_014191.4(SCN8A):c.660C>T (p.Arg220=) rs972774428
NM_014191.4(SCN8A):c.680C>T (p.Ala227Val)
NM_014191.4(SCN8A):c.695C>T (p.Ser232Leu)
NM_014191.4(SCN8A):c.700A>G (p.Ile234Val) rs2138716234

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.