ClinVar Miner

List of variants reported as uncertain significance for benign partial infantile seizures by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 640
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956 0.00016
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.5836_5838del (p.Lys1946del) rs770838929 0.00007
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482 0.00006
NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys) rs367833365 0.00005
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00004
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu) rs143734912 0.00004
NM_001040142.2(SCN2A):c.2016+3G>A rs752881264 0.00004
NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr) rs753977894 0.00004
NM_001040142.2(SCN2A):c.5672T>A (p.Val1891Asp) rs758908934 0.00004
NM_001040142.2(SCN2A):c.5705G>A (p.Arg1902His) rs747710683 0.00004
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg) rs796053201 0.00003
NM_001040142.2(SCN2A):c.1858C>T (p.Arg620Trp) rs762680220 0.00003
NM_001040142.2(SCN2A):c.2388+6C>A rs747774131 0.00003
NM_001040142.2(SCN2A):c.3065G>A (p.Arg1022His) rs376774884 0.00003
NM_001040142.2(SCN2A):c.3196A>C (p.Asn1066His) rs748876017 0.00003
NM_001040142.2(SCN2A):c.1436G>T (p.Gly479Val) rs763114190 0.00002
NM_001040142.2(SCN2A):c.1490G>A (p.Ser497Asn) rs778749930 0.00002
NM_001040142.2(SCN2A):c.2219A>G (p.Asp740Gly) rs747869260 0.00002
NM_001040142.2(SCN2A):c.3102A>C (p.Lys1034Asn) rs772956132 0.00002
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met) rs765278777 0.00002
NM_001040142.2(SCN2A):c.3260T>C (p.Val1087Ala) rs1457881200 0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001040142.2(SCN2A):c.3850-3T>C rs1445707939 0.00002
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met) rs779140322 0.00002
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001040142.2(SCN2A):c.6004G>A (p.Glu2002Lys) rs780027748 0.00002
NM_001040142.2(SCN2A):c.901G>A (p.Asp301Asn) rs1432098565 0.00002
NM_001040142.2(SCN2A):c.923A>G (p.Asn308Ser) rs753821498 0.00002
NM_001040142.2(SCN2A):c.115C>A (p.Gln39Lys) rs757194863 0.00001
NM_001040142.2(SCN2A):c.1355A>G (p.Gln452Arg) rs368212942 0.00001
NM_001040142.2(SCN2A):c.1382A>G (p.Gln461Arg) rs780709903 0.00001
NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg) rs369488860 0.00001
NM_001040142.2(SCN2A):c.145G>A (p.Gly49Ser) rs773605666 0.00001
NM_001040142.2(SCN2A):c.1484C>A (p.Ser495Tyr) rs140661535 0.00001
NM_001040142.2(SCN2A):c.1558A>T (p.Asn520Tyr) rs746957483 0.00001
NM_001040142.2(SCN2A):c.1598G>A (p.Arg533Lys) rs1057520163 0.00001
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys) rs775923587 0.00001
NM_001040142.2(SCN2A):c.1661C>T (p.Ser554Phe) rs764865753 0.00001
NM_001040142.2(SCN2A):c.1672-3T>C rs769105267 0.00001
NM_001040142.2(SCN2A):c.1711C>T (p.Arg571Cys) rs750049844 0.00001
NM_001040142.2(SCN2A):c.1724C>T (p.Ala575Val) rs986167267 0.00001
NM_001040142.2(SCN2A):c.1747C>G (p.Arg583Gly) rs1553571901 0.00001
NM_001040142.2(SCN2A):c.1748G>A (p.Arg583Gln) rs1158928024 0.00001
NM_001040142.2(SCN2A):c.1755G>C (p.Lys585Asn) rs370685828 0.00001
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met) rs769069833 0.00001
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996 0.00001
NM_001040142.2(SCN2A):c.1945G>A (p.Asp649Asn) rs1698173114 0.00001
NM_001040142.2(SCN2A):c.1969G>A (p.Val657Ile) rs770573856 0.00001
NM_001040142.2(SCN2A):c.2016+5G>A rs756399627 0.00001
NM_001040142.2(SCN2A):c.2021C>A (p.Thr674Lys) rs1698384021 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.2143A>G (p.Met715Val) rs1490648646 0.00001
NM_001040142.2(SCN2A):c.2204T>A (p.Met735Lys) rs924845392 0.00001
NM_001040142.2(SCN2A):c.2258A>G (p.Asn753Ser) rs772159401 0.00001
NM_001040142.2(SCN2A):c.2278T>A (p.Phe760Ile) rs775759603 0.00001
NM_001040142.2(SCN2A):c.2388+11C>G rs866295388 0.00001
NM_001040142.2(SCN2A):c.23C>T (p.Pro8Leu) rs747139785 0.00001
NM_001040142.2(SCN2A):c.2747A>G (p.Asn916Ser) rs763684457 0.00001
NM_001040142.2(SCN2A):c.2759T>A (p.Leu920His) rs761599392 0.00001
NM_001040142.2(SCN2A):c.2919+4T>C rs182428124 0.00001
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) rs769267899 0.00001
NM_001040142.2(SCN2A):c.3107T>C (p.Leu1036Ser) rs774256116 0.00001
NM_001040142.2(SCN2A):c.3130G>T (p.Asp1044Tyr) rs1197983141 0.00001
NM_001040142.2(SCN2A):c.3157A>G (p.Ile1053Val) rs1054419020 0.00001
NM_001040142.2(SCN2A):c.3176T>C (p.Ile1059Thr) rs755305829 0.00001
NM_001040142.2(SCN2A):c.3177A>G (p.Ile1059Met) rs960821024 0.00001
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683 0.00001
NM_001040142.2(SCN2A):c.3356C>T (p.Thr1119Ile) rs756738916 0.00001
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala) rs1160491617 0.00001
NM_001040142.2(SCN2A):c.3434C>T (p.Thr1145Met) rs796053128 0.00001
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.347A>G (p.Asn116Ser) rs1173773190 0.00001
NM_001040142.2(SCN2A):c.3586A>G (p.Asn1196Asp) rs796053199 0.00001
NM_001040142.2(SCN2A):c.3623A>G (p.Asn1208Ser) rs781032326 0.00001
NM_001040142.2(SCN2A):c.3638T>G (p.Phe1213Cys) rs1700783513 0.00001
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020 0.00001
NM_001040142.2(SCN2A):c.3689T>C (p.Ile1230Thr) rs777751518 0.00001
NM_001040142.2(SCN2A):c.3706A>G (p.Lys1236Glu) rs1229209018 0.00001
NM_001040142.2(SCN2A):c.3721A>G (p.Met1241Val) rs1334797843 0.00001
NM_001040142.2(SCN2A):c.3803T>A (p.Val1268Glu) rs774849906 0.00001
NM_001040142.2(SCN2A):c.3971G>A (p.Arg1324Lys) rs761654525 0.00001
NM_001040142.2(SCN2A):c.4414A>G (p.Ile1472Val) rs368657915 0.00001
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr) rs199641159 0.00001
NM_001040142.2(SCN2A):c.5007G>A (p.Leu1669=) rs1423260538 0.00001
NM_001040142.2(SCN2A):c.5023G>A (p.Ala1675Thr) rs1469322698 0.00001
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val) rs755159786 0.00001
NM_001040142.2(SCN2A):c.5412G>T (p.Lys1804Asn) rs759697991 0.00001
NM_001040142.2(SCN2A):c.5589G>C (p.Lys1863Asn) rs760733246 0.00001
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val) rs772819993 0.00001
NM_001040142.2(SCN2A):c.5773G>A (p.Val1925Ile) rs145727224 0.00001
NM_001040142.2(SCN2A):c.5791A>G (p.Ile1931Val) rs758820824 0.00001
NM_001040142.2(SCN2A):c.5839G>A (p.Glu1947Lys) rs1464068986 0.00001
NM_001040142.2(SCN2A):c.5999T>C (p.Ile2000Thr) rs1433941543 0.00001
NM_001040142.2(SCN2A):c.599C>G (p.Thr200Ser) rs202234412 0.00001
NM_001040142.2(SCN2A):c.6007A>T (p.Ser2003Cys) rs1389700505 0.00001
NM_001040142.2(SCN2A):c.697+13T>G rs770992144 0.00001
NM_001040142.2(SCN2A):c.697+3G>A rs754960917 0.00001
NM_001040142.2(SCN2A):c.73A>G (p.Ile25Val) rs767145207 0.00001
NM_001040142.2(SCN2A):c.745T>A (p.Ser249Thr) rs1210217208 0.00001
NM_001040142.2(SCN2A):c.864T>G (p.Phe288Leu) rs1008008564 0.00001
NC_000002.11:g.(?_165946640)_(166246354_?)dup
NC_000002.11:g.(?_165946660)_(166246334_?)dup
NC_000002.11:g.(?_165984121)_(166246354_?)dup
NC_000002.11:g.(?_166210682)_(167168266_?)dup
NC_000002.11:g.(?_166210692)_(166226819_?)dup
NC_000002.11:g.(?_166226616)_(166226829_?)dup
NC_000002.12:g.(?_165090130)_(166311776_?)dup
NC_000002.12:g.(?_165295804)_(165389844_?)dup
NM_001040142.2(SCN2A):c.1028A>G (p.Asp343Gly) rs1057524164
NM_001040142.2(SCN2A):c.1034+3A>G
NM_001040142.2(SCN2A):c.1034+4A>G rs1697466247
NM_001040142.2(SCN2A):c.1034G>T (p.Gly345Val)
NM_001040142.2(SCN2A):c.1039T>C (p.Cys347Arg)
NM_001040142.2(SCN2A):c.1046A>C (p.Glu349Ala) rs1574566659
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1094C>G (p.Thr365Arg)
NM_001040142.2(SCN2A):c.109C>A (p.Pro37Thr) rs763906285
NM_001040142.2(SCN2A):c.1106C>A (p.Thr369Asn) rs1697568342
NM_001040142.2(SCN2A):c.110C>G (p.Pro37Arg)
NM_001040142.2(SCN2A):c.1129T>A (p.Leu377Ile) rs1697569806
NM_001040142.2(SCN2A):c.1156T>C (p.Trp386Arg)
NM_001040142.2(SCN2A):c.1165C>G (p.Leu389Val)
NM_001040142.2(SCN2A):c.1166T>A (p.Leu389His)
NM_001040142.2(SCN2A):c.1177-3C>G
NM_001040142.2(SCN2A):c.1177-6T>A rs2105255749
NM_001040142.2(SCN2A):c.1186G>A (p.Ala396Thr)
NM_001040142.2(SCN2A):c.118G>A (p.Glu40Lys) rs1553564192
NM_001040142.2(SCN2A):c.1198A>G (p.Thr400Ala)
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.1199C>T (p.Thr400Met)
NM_001040142.2(SCN2A):c.1206_1208del (p.Met402del)
NM_001040142.2(SCN2A):c.1208T>C (p.Ile403Thr)
NM_001040142.2(SCN2A):c.1219C>A (p.Leu407Met)
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.122G>T (p.Arg41Leu) rs754993031
NM_001040142.2(SCN2A):c.1238C>T (p.Ser413Leu) rs2105255865
NM_001040142.2(SCN2A):c.1249A>G (p.Ile417Val)
NM_001040142.2(SCN2A):c.1253A>G (p.Asn418Ser) rs1553568970
NM_001040142.2(SCN2A):c.1259T>A (p.Ile420Asn) rs1697584791
NM_001040142.2(SCN2A):c.1263G>A (p.Leu421=)
NM_001040142.2(SCN2A):c.1280C>T (p.Ala427Val)
NM_001040142.2(SCN2A):c.1285G>A (p.Glu429Lys) rs1553568987
NM_001040142.2(SCN2A):c.1292A>G (p.Gln431Arg) rs1697588104
NM_001040142.2(SCN2A):c.1300G>A (p.Ala434Thr) rs1553568999
NM_001040142.2(SCN2A):c.1301C>A (p.Ala434Asp)
NM_001040142.2(SCN2A):c.1314G>C (p.Glu438Asp) rs1697590312
NM_001040142.2(SCN2A):c.1330G>A (p.Ala444Thr) rs765670012
NM_001040142.2(SCN2A):c.1348C>T (p.Leu450Phe)
NM_001040142.2(SCN2A):c.134A>T (p.Asp45Val) rs748331725
NM_001040142.2(SCN2A):c.1360A>G (p.Lys454Glu)
NM_001040142.2(SCN2A):c.1361A>T (p.Lys454Ile)
NM_001040142.2(SCN2A):c.1370AAG[2] (p.Glu459del)
NM_001040142.2(SCN2A):c.1385C>A (p.Ala462Glu)
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.1393G>A (p.Ala465Thr)
NM_001040142.2(SCN2A):c.1395_1406dup (p.Ala466_Ala469dup) rs1697689259
NM_001040142.2(SCN2A):c.1396_1401dup (p.Ala466_Ala467dup) rs754615123
NM_001040142.2(SCN2A):c.1398_1400del (p.Ala467del)
NM_001040142.2(SCN2A):c.13G>A (p.Val5Met)
NM_001040142.2(SCN2A):c.1400C>T (p.Ala467Val) rs2105259518
NM_001040142.2(SCN2A):c.1429G>A (p.Ala477Thr) rs2105259608
NM_001040142.2(SCN2A):c.1436G>A (p.Gly479Glu) rs763114190
NM_001040142.2(SCN2A):c.1455G>C (p.Glu485Asp)
NM_001040142.2(SCN2A):c.1457G>T (p.Ser486Ile)
NM_001040142.2(SCN2A):c.1460C>A (p.Ser487Tyr) rs1697697157
NM_001040142.2(SCN2A):c.1460C>T (p.Ser487Phe) rs1697697157
NM_001040142.2(SCN2A):c.1472C>T (p.Ser491Phe) rs1697697928
NM_001040142.2(SCN2A):c.1484C>G (p.Ser495Cys) rs140661535
NM_001040142.2(SCN2A):c.148C>T (p.Pro50Ser)
NM_001040142.2(SCN2A):c.149C>A (p.Pro50Gln) rs2106149256
NM_001040142.2(SCN2A):c.1511G>A (p.Arg504Lys)
NM_001040142.2(SCN2A):c.1513A>G (p.Arg505Gly) rs1378908186
NM_001040142.2(SCN2A):c.1517A>G (p.Lys506Arg)
NM_001040142.2(SCN2A):c.1519A>G (p.Lys507Glu) rs1553569649
NM_001040142.2(SCN2A):c.1524G>T (p.Lys508Asn) rs2105259852
NM_001040142.2(SCN2A):c.1533A>T (p.Lys511Asn)
NM_001040142.2(SCN2A):c.1538A>G (p.Gln513Arg) rs905945919
NM_001040142.2(SCN2A):c.1541C>T (p.Ser514Phe)
NM_001040142.2(SCN2A):c.1545AGA[2] (p.Glu518del) rs1457091720
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His) rs1574572514
NM_001040142.2(SCN2A):c.1564A>G (p.Arg522Gly)
NM_001040142.2(SCN2A):c.1589A>G (p.Asp530Gly)
NM_001040142.2(SCN2A):c.158A>G (p.Asn53Ser)
NM_001040142.2(SCN2A):c.1592G>A (p.Ser531Asn) rs1697706158
NM_001040142.2(SCN2A):c.1594A>G (p.Ile532Val)
NM_001040142.2(SCN2A):c.1607G>A (p.Gly536Asp) rs1697707398
NM_001040142.2(SCN2A):c.160A>T (p.Ser54Cys) rs557687080
NM_001040142.2(SCN2A):c.1616T>C (p.Phe539Ser) rs2105260084
NM_001040142.2(SCN2A):c.163G>A (p.Asp55Asn)
NM_001040142.2(SCN2A):c.163G>C (p.Asp55His)
NM_001040142.2(SCN2A):c.1654T>C (p.Phe552Leu) rs1186187591
NM_001040142.2(SCN2A):c.1655T>C (p.Phe552Ser)
NM_001040142.2(SCN2A):c.1671+5A>C
NM_001040142.2(SCN2A):c.1691G>A (p.Gly564Asp)
NM_001040142.2(SCN2A):c.1721G>A (p.Arg574Lys)
NM_001040142.2(SCN2A):c.1738T>C (p.Phe580Leu)
NM_001040142.2(SCN2A):c.1741A>G (p.Arg581Gly)
NM_001040142.2(SCN2A):c.1751C>G (p.Ala584Gly) rs1015465660
NM_001040142.2(SCN2A):c.1759A>G (p.Ile587Val) rs148275498
NM_001040142.2(SCN2A):c.1777T>C (p.Phe593Leu) rs1698165274
NM_001040142.2(SCN2A):c.1786G>C (p.Asp596His)
NM_001040142.2(SCN2A):c.179A>G (p.Lys60Arg) rs1696487020
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.1827C>A (p.Asp609Glu)
NM_001040142.2(SCN2A):c.1861C>A (p.Arg621Ser)
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.1888C>G (p.Arg630Gly)
NM_001040142.2(SCN2A):c.188C>T (p.Pro63Leu)
NM_001040142.2(SCN2A):c.1898G>A (p.Arg633Lys)
NM_001040142.2(SCN2A):c.1901T>A (p.Val634Glu)
NM_001040142.2(SCN2A):c.1909A>T (p.Ile637Phe) rs758619758
NM_001040142.2(SCN2A):c.1919T>C (p.Met640Thr) rs1559362618
NM_001040142.2(SCN2A):c.1934A>G (p.His645Arg)
NM_001040142.2(SCN2A):c.1972G>A (p.Gly658Arg) rs767183298
NM_001040142.2(SCN2A):c.1972G>C (p.Gly658Arg)
NM_001040142.2(SCN2A):c.1973G>A (p.Gly658Glu)
NM_001040142.2(SCN2A):c.1978C>T (p.Pro660Ser)
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val) rs1017711579
NM_001040142.2(SCN2A):c.2009T>G (p.Leu670Arg) rs1698177953
NM_001040142.2(SCN2A):c.2016+6G>T rs748611550
NM_001040142.2(SCN2A):c.2017G>C (p.Gly673Arg) rs766339753
NM_001040142.2(SCN2A):c.2020A>G (p.Thr674Ala) rs1360867886
NM_001040142.2(SCN2A):c.2033C>G (p.Thr678Arg) rs1446046264
NM_001040142.2(SCN2A):c.2033C>T (p.Thr678Ile) rs1446046264
NM_001040142.2(SCN2A):c.2057G>A (p.Ser686Asn)
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile) rs796053190
NM_001040142.2(SCN2A):c.2062T>C (p.Tyr688His)
NM_001040142.2(SCN2A):c.2066A>C (p.His689Pro) rs778275125
NM_001040142.2(SCN2A):c.2075T>C (p.Met692Thr) rs779698884
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile) rs1060503100
NM_001040142.2(SCN2A):c.2102G>A (p.Arg701Lys)
NM_001040142.2(SCN2A):c.2130T>G (p.Ile710Met) rs2105284581
NM_001040142.2(SCN2A):c.2138A>G (p.Asn713Ser)
NM_001040142.2(SCN2A):c.2149+5G>A rs773024189
NM_001040142.2(SCN2A):c.2167C>A (p.Gln723Lys) rs1553574506
NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu) rs867268264
NM_001040142.2(SCN2A):c.218T>C (p.Met73Thr) rs2106149377
NM_001040142.2(SCN2A):c.2192A>C (p.Lys731Thr)
NM_001040142.2(SCN2A):c.2198C>T (p.Ala733Val)
NM_001040142.2(SCN2A):c.2204T>C (p.Met735Thr) rs924845392
NM_001040142.2(SCN2A):c.220G>A (p.Val74Met) rs1553564231
NM_001040142.2(SCN2A):c.2219A>C (p.Asp740Ala) rs747869260
NM_001040142.2(SCN2A):c.2266G>A (p.Val756Ile)
NM_001040142.2(SCN2A):c.2273A>G (p.Asp758Gly) rs1698669001
NM_001040142.2(SCN2A):c.2281G>C (p.Val761Leu) rs2105293473
NM_001040142.2(SCN2A):c.2293A>G (p.Ile765Val)
NM_001040142.2(SCN2A):c.2299A>G (p.Ile767Val)
NM_001040142.2(SCN2A):c.2300T>C (p.Ile767Thr) rs2105293488
NM_001040142.2(SCN2A):c.2320C>T (p.Leu774Phe) rs1458651318
NM_001040142.2(SCN2A):c.2351C>T (p.Thr784Met) rs758872788
NM_001040142.2(SCN2A):c.2357A>G (p.Gln786Arg) rs1698672623
NM_001040142.2(SCN2A):c.235G>C (p.Glu79Gln) rs1402926276
NM_001040142.2(SCN2A):c.2377G>A (p.Val793Ile) rs2105293604
NM_001040142.2(SCN2A):c.2388+5G>A
NM_001040142.2(SCN2A):c.2388G>C (p.Leu796=) rs2105293632
NM_001040142.2(SCN2A):c.239A>T (p.Asp80Val)
NM_001040142.2(SCN2A):c.2435C>T (p.Ala812Val) rs1699362667
NM_001040142.2(SCN2A):c.2447A>T (p.Tyr816Phe) rs2105314804
NM_001040142.2(SCN2A):c.247C>A (p.Pro83Thr) rs1696490964
NM_001040142.2(SCN2A):c.2482G>A (p.Gly828Ser)
NM_001040142.2(SCN2A):c.2495G>A (p.Ser832Asn) rs2105314862
NM_001040142.2(SCN2A):c.2506A>T (p.Met836Leu) rs1553578445
NM_001040142.2(SCN2A):c.2508G>A (p.Met836Ile) rs1559375240
NM_001040142.2(SCN2A):c.2512C>A (p.Leu838Ile)
NM_001040142.2(SCN2A):c.2513T>C (p.Leu838Pro)
NM_001040142.2(SCN2A):c.2539T>C (p.Ser847Pro) rs1699366480
NM_001040142.2(SCN2A):c.254A>T (p.Tyr85Phe)
NM_001040142.2(SCN2A):c.2588C>T (p.Ser863Phe) rs1215326426
NM_001040142.2(SCN2A):c.260A>G (p.Asn87Ser) rs2106149436
NM_001040142.2(SCN2A):c.261T>A (p.Asn87Lys)
NM_001040142.2(SCN2A):c.2653A>C (p.Thr885Pro) rs2105318789
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2656T>A (p.Leu886Met)
NM_001040142.2(SCN2A):c.2656T>G (p.Leu886Val)
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2680A>C (p.Ile894Leu) rs2105318835
NM_001040142.2(SCN2A):c.2684T>A (p.Phe895Tyr) rs1421192666
NM_001040142.2(SCN2A):c.2686G>T (p.Ala896Ser) rs2105318845
NM_001040142.2(SCN2A):c.269C>T (p.Thr90Met)
NM_001040142.2(SCN2A):c.2713A>G (p.Lys905Glu) rs886043250
NM_001040142.2(SCN2A):c.2746A>C (p.Asn916His)
NM_001040142.2(SCN2A):c.276A>G (p.Ile92Met) rs761549438
NM_001040142.2(SCN2A):c.2776C>G (p.His926Asp) rs765106343
NM_001040142.2(SCN2A):c.277G>A (p.Val93Ile) rs1696548073
NM_001040142.2(SCN2A):c.2786T>C (p.Phe929Ser)
NM_001040142.2(SCN2A):c.2788C>T (p.His930Tyr) rs1699484099
NM_001040142.2(SCN2A):c.2821G>A (p.Gly941Arg)
NM_001040142.2(SCN2A):c.2837C>A (p.Thr946Asn)
NM_001040142.2(SCN2A):c.2858T>C (p.Val953Ala)
NM_001040142.2(SCN2A):c.2860G>A (p.Ala954Thr)
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn) rs2105319167
NM_001040142.2(SCN2A):c.2874G>T (p.Met958Ile)
NM_001040142.2(SCN2A):c.2888T>C (p.Phe963Ser) rs1699488989
NM_001040142.2(SCN2A):c.2890A>T (p.Met964Leu)
NM_001040142.2(SCN2A):c.2899A>T (p.Met967Leu)
NM_001040142.2(SCN2A):c.2912A>G (p.Asn971Ser)
NM_001040142.2(SCN2A):c.2914C>A (p.Leu972Ile) rs2105319221
NM_001040142.2(SCN2A):c.2945T>G (p.Leu982Arg) rs1700069682
NM_001040142.2(SCN2A):c.2969A>G (p.Asn990Ser) rs753985224
NM_001040142.2(SCN2A):c.296C>T (p.Ala99Val)
NM_001040142.2(SCN2A):c.2978C>G (p.Ala993Gly) rs2105336862
NM_001040142.2(SCN2A):c.2983G>A (p.Asp995Asn)
NM_001040142.2(SCN2A):c.2985T>A (p.Asp995Glu) rs1336113495
NM_001040142.2(SCN2A):c.2987A>G (p.Asp996Gly) rs1574664322
NM_001040142.2(SCN2A):c.2989G>A (p.Asp997Asn)
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.2993A>G (p.Asn998Ser)
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) rs121917754
NM_001040142.2(SCN2A):c.3012G>T (p.Gln1004His)
NM_001040142.2(SCN2A):c.3029T>C (p.Met1010Thr)
NM_001040142.2(SCN2A):c.3037G>A (p.Gly1013Arg)
NM_001040142.2(SCN2A):c.3043G>C (p.Asp1015His)
NM_001040142.2(SCN2A):c.3043G>T (p.Asp1015Tyr) rs747451714
NM_001040142.2(SCN2A):c.3052A>G (p.Lys1018Glu)
NM_001040142.2(SCN2A):c.3061A>T (p.Ile1021Leu) rs1700074563
NM_001040142.2(SCN2A):c.3064C>T (p.Arg1022Cys) rs980593981
NM_001040142.2(SCN2A):c.3068A>T (p.Glu1023Val) rs1411722259
NM_001040142.2(SCN2A):c.3104C>G (p.Ala1035Gly) rs766061576
NM_001040142.2(SCN2A):c.3116T>C (p.Ile1039Thr) rs1700078175
NM_001040142.2(SCN2A):c.3154T>C (p.Cys1052Arg) rs2105337207
NM_001040142.2(SCN2A):c.3155G>A (p.Cys1052Tyr)
NM_001040142.2(SCN2A):c.3165C>A (p.Asn1055Lys)
NM_001040142.2(SCN2A):c.3170C>T (p.Thr1057Ile)
NM_001040142.2(SCN2A):c.3179A>T (p.Glu1060Val)
NM_001040142.2(SCN2A):c.3182T>C (p.Ile1061Thr) rs781742853
NM_001040142.2(SCN2A):c.3184G>A (p.Gly1062Ser)
NM_001040142.2(SCN2A):c.3210C>G (p.Asp1070Glu) rs187731029
NM_001040142.2(SCN2A):c.3211G>A (p.Gly1071Arg) rs1553584033
NM_001040142.2(SCN2A):c.3231C>T (p.Gly1077=) rs775367520
NM_001040142.2(SCN2A):c.3274T>C (p.Tyr1092His)
NM_001040142.2(SCN2A):c.3275A>T (p.Tyr1092Phe) rs2105337416
NM_001040142.2(SCN2A):c.3320T>C (p.Ile1107Thr)
NM_001040142.2(SCN2A):c.3325G>C (p.Val1109Leu)
NM_001040142.2(SCN2A):c.3333A>T (p.Glu1111Asp) rs2105337534
NM_001040142.2(SCN2A):c.3337G>A (p.Asp1113Asn)
NM_001040142.2(SCN2A):c.3340T>C (p.Phe1114Leu)
NM_001040142.2(SCN2A):c.3359A>G (p.Glu1120Gly) rs1700088503
NM_001040142.2(SCN2A):c.3370A>T (p.Ser1124Cys) rs777414804
NM_001040142.2(SCN2A):c.3382A>G (p.Met1128Val)
NM_001040142.2(SCN2A):c.3383T>C (p.Met1128Thr) rs373780066
NM_001040142.2(SCN2A):c.3386A>G (p.Glu1129Gly) rs1423695098
NM_001040142.2(SCN2A):c.3395A>C (p.Lys1132Thr) rs2105337628
NM_001040142.2(SCN2A):c.3399+15A>G
NM_001040142.2(SCN2A):c.3408T>G (p.Asn1136Lys) rs890803233
NM_001040142.2(SCN2A):c.3410C>A (p.Ala1137Glu) rs1700657122
NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser) rs2105355734
NM_001040142.2(SCN2A):c.3428G>T (p.Gly1143Val) rs1287436433
NM_001040142.2(SCN2A):c.3445G>A (p.Gly1149Arg)
NM_001040142.2(SCN2A):c.3449C>G (p.Ala1150Gly) rs2105355786
NM_001040142.2(SCN2A):c.3455C>T (p.Ala1152Val) rs2105355801
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3457G>C (p.Glu1153Gln) rs200138205
NM_001040142.2(SCN2A):c.3458A>T (p.Glu1153Val)
NM_001040142.2(SCN2A):c.3463G>A (p.Glu1155Lys)
NM_001040142.2(SCN2A):c.3469C>G (p.Pro1157Ala) rs2105355838
NM_001040142.2(SCN2A):c.3470C>G (p.Pro1157Arg) rs1553589034
NM_001040142.2(SCN2A):c.3476T>C (p.Val1159Ala)
NM_001040142.2(SCN2A):c.3478G>C (p.Glu1160Gln) rs1553589056
NM_001040142.2(SCN2A):c.3479A>G (p.Glu1160Gly) rs1700660923
NM_001040142.2(SCN2A):c.3494T>A (p.Leu1165His)
NM_001040142.2(SCN2A):c.3517G>A (p.Glu1173Lys)
NM_001040142.2(SCN2A):c.3527T>C (p.Val1176Ala)
NM_001040142.2(SCN2A):c.3537C>G (p.Phe1179Leu) rs2105359518
NM_001040142.2(SCN2A):c.3542G>T (p.Cys1181Phe)
NM_001040142.2(SCN2A):c.3544T>C (p.Cys1182Arg)
NM_001040142.2(SCN2A):c.3545G>T (p.Cys1182Phe) rs2105359539
NM_001040142.2(SCN2A):c.3553A>G (p.Ser1185Gly) rs2105359571
NM_001040142.2(SCN2A):c.3554G>A (p.Ser1185Asn) rs764498057
NM_001040142.2(SCN2A):c.3558A>G (p.Ile1186Met) rs2105359590
NM_001040142.2(SCN2A):c.3568A>C (p.Lys1190Gln) rs1553590166
NM_001040142.2(SCN2A):c.3589T>A (p.Leu1197Met) rs2105359679
NM_001040142.2(SCN2A):c.3590T>C (p.Leu1197Ser)
NM_001040142.2(SCN2A):c.359A>T (p.Lys120Ile) rs1696551190
NM_001040142.2(SCN2A):c.3601T>G (p.Cys1201Gly)
NM_001040142.2(SCN2A):c.361T>G (p.Leu121Val) rs374951365
NM_001040142.2(SCN2A):c.3666_3668del (p.Ser1222_Gly1223delinsArg) rs1574697784
NM_001040142.2(SCN2A):c.3670G>A (p.Ala1224Thr)
NM_001040142.2(SCN2A):c.367A>G (p.Ile123Val) rs1396703741
NM_001040142.2(SCN2A):c.3691T>C (p.Tyr1231His) rs1298081979
NM_001040142.2(SCN2A):c.3694A>G (p.Ile1232Val)
NM_001040142.2(SCN2A):c.3707A>G (p.Lys1236Arg) rs2105365136
NM_001040142.2(SCN2A):c.3712A>G (p.Ile1238Val) rs1700951980
NM_001040142.2(SCN2A):c.3719C>T (p.Thr1240Ile) rs2105365169
NM_001040142.2(SCN2A):c.3722T>C (p.Met1241Thr) rs1700952405
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_001040142.2(SCN2A):c.3738C>G (p.Asp1246Glu) rs1359219743
NM_001040142.2(SCN2A):c.3754A>G (p.Ile1252Val)
NM_001040142.2(SCN2A):c.3760A>T (p.Ile1254Phe)
NM_001040142.2(SCN2A):c.3767A>G (p.Glu1256Gly)
NM_001040142.2(SCN2A):c.3780G>C (p.Lys1260Asn) rs763442348
NM_001040142.2(SCN2A):c.3780G>T (p.Lys1260Asn)
NM_001040142.2(SCN2A):c.3793_3795del (p.Gly1265del) rs1700956276
NM_001040142.2(SCN2A):c.3802G>C (p.Val1268Leu) rs1700956689
NM_001040142.2(SCN2A):c.3811A>G (p.Thr1271Ala) rs1559395577
NM_001040142.2(SCN2A):c.3820T>C (p.Trp1274Arg) rs1700957249
NM_001040142.2(SCN2A):c.3849+5G>C
NM_001040142.2(SCN2A):c.3849T>A (p.Asp1283Glu) rs752258602
NM_001040142.2(SCN2A):c.3859G>A (p.Val1287Ile)
NM_001040142.2(SCN2A):c.386+1A>C
NM_001040142.2(SCN2A):c.3869C>T (p.Thr1290Ile) rs1701137468
NM_001040142.2(SCN2A):c.3874A>G (p.Asn1292Asp) rs2105370639
NM_001040142.2(SCN2A):c.3875A>C (p.Asn1292Thr) rs1701137702
NM_001040142.2(SCN2A):c.3884G>A (p.Gly1295Asp) rs2105370652
NM_001040142.2(SCN2A):c.3922C>A (p.Leu1308Ile) rs2105370702
NM_001040142.2(SCN2A):c.3922C>G (p.Leu1308Val)
NM_001040142.2(SCN2A):c.3923T>G (p.Leu1308Arg)
NM_001040142.2(SCN2A):c.3926G>T (p.Arg1309Ile) rs1701139719
NM_001040142.2(SCN2A):c.3943A>G (p.Arg1315Gly) rs1553593080
NM_001040142.2(SCN2A):c.3944G>T (p.Arg1315Ile) rs796053129
NM_001040142.2(SCN2A):c.3951G>T (p.Leu1317Phe) rs1574712189
NM_001040142.2(SCN2A):c.395A>G (p.Asn132Ser) rs1309536386
NM_001040142.2(SCN2A):c.3973G>A (p.Val1325Ile)
NM_001040142.2(SCN2A):c.397A>G (p.Met133Val)
NM_001040142.2(SCN2A):c.398T>G (p.Met133Arg) rs2105241293
NM_001040142.2(SCN2A):c.399G>A (p.Met133Ile)
NM_001040142.2(SCN2A):c.399G>T (p.Met133Ile) rs2105241303
NM_001040142.2(SCN2A):c.4021C>G (p.Leu1341Val)
NM_001040142.2(SCN2A):c.4060A>G (p.Met1354Val) rs1701224136
NM_001040142.2(SCN2A):c.4118A>G (p.Glu1373Gly) rs918734456
NM_001040142.2(SCN2A):c.4121T>C (p.Met1374Thr)
NM_001040142.2(SCN2A):c.4139T>C (p.Val1380Ala)
NM_001040142.2(SCN2A):c.4139T>G (p.Val1380Gly)
NM_001040142.2(SCN2A):c.4142A>G (p.Asn1381Ser) rs2105373170
NM_001040142.2(SCN2A):c.4168A>G (p.Ile1390Val)
NM_001040142.2(SCN2A):c.4175G>A (p.Ser1392Asn)
NM_001040142.2(SCN2A):c.4201G>A (p.Val1401Met) rs1264909971
NM_001040142.2(SCN2A):c.4201G>C (p.Val1401Leu) rs1264909971
NM_001040142.2(SCN2A):c.422C>G (p.Thr141Ser) rs1553567082
NM_001040142.2(SCN2A):c.4232G>A (p.Gly1411Glu) rs1701232096
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe) rs1559399522
NM_001040142.2(SCN2A):c.424A>G (p.Asn142Asp) rs1574552921
NM_001040142.2(SCN2A):c.4255-3C>T rs1553461654
NM_001040142.2(SCN2A):c.4255G>T (p.Ala1419Ser)
NM_001040142.2(SCN2A):c.4256C>G (p.Ala1419Gly)
NM_001040142.2(SCN2A):c.4258A>G (p.Thr1420Ala)
NM_001040142.2(SCN2A):c.4268G>A (p.Gly1423Glu)
NM_001040142.2(SCN2A):c.4276G>C (p.Asp1426His)
NM_001040142.2(SCN2A):c.4304G>A (p.Arg1435Gln) rs1574723722
NM_001040142.2(SCN2A):c.4327T>C (p.Tyr1443His)
NM_001040142.2(SCN2A):c.4337A>G (p.Asn1446Ser)
NM_001040142.2(SCN2A):c.4363A>G (p.Ile1455Val)
NM_001040142.2(SCN2A):c.4363A>T (p.Ile1455Phe) rs2105384627
NM_001040142.2(SCN2A):c.4366T>G (p.Phe1456Val)
NM_001040142.2(SCN2A):c.4369A>G (p.Ile1457Val) rs796053142
NM_001040142.2(SCN2A):c.4370T>A (p.Ile1457Asn)
NM_001040142.2(SCN2A):c.4379G>A (p.Gly1460Asp)
NM_001040142.2(SCN2A):c.4403T>C (p.Phe1468Ser) rs1701554113
NM_001040142.2(SCN2A):c.4406T>C (p.Ile1469Thr)
NM_001040142.2(SCN2A):c.4426T>C (p.Phe1476Leu)
NM_001040142.2(SCN2A):c.4428C>T (p.Phe1476=)
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4435C>G (p.Gln1479Glu) rs1553462134
NM_001040142.2(SCN2A):c.4446+5G>C
NM_001040142.2(SCN2A):c.4447-7_4447-3del rs1701578547
NM_001040142.2(SCN2A):c.4447T>C (p.Phe1483Leu)
NM_001040142.2(SCN2A):c.444G>A (p.Met148Ile)
NM_001040142.2(SCN2A):c.4451G>C (p.Gly1484Ala) rs2105385669
NM_001040142.2(SCN2A):c.4453G>A (p.Gly1485Ser) rs1701578958
NM_001040142.2(SCN2A):c.4453G>C (p.Gly1485Arg)
NM_001040142.2(SCN2A):c.4460A>T (p.Asp1487Val)
NM_001040142.2(SCN2A):c.4461C>G (p.Asp1487Glu) rs1553462203
NM_001040142.2(SCN2A):c.448A>G (p.Asn150Asp)
NM_001040142.2(SCN2A):c.4492T>C (p.Tyr1498His) rs2105385797
NM_001040142.2(SCN2A):c.4535C>A (p.Pro1512His) rs2105385911
NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)
NM_001040142.2(SCN2A):c.4537A>G (p.Ile1513Val)
NM_001040142.2(SCN2A):c.4538T>C (p.Ile1513Thr)
NM_001040142.2(SCN2A):c.4549G>A (p.Ala1517Thr) rs1701583848
NM_001040142.2(SCN2A):c.4549G>T (p.Ala1517Ser) rs1701583848
NM_001040142.2(SCN2A):c.4568T>A (p.Met1523Lys)
NM_001040142.2(SCN2A):c.4593A>T (p.Gln1531His) rs2105398231
NM_001040142.2(SCN2A):c.4607G>A (p.Ser1536Asn) rs1044510361
NM_001040142.2(SCN2A):c.4614G>A (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4614G>C (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4623C>G (p.Ile1541Met)
NM_001040142.2(SCN2A):c.463A>G (p.Thr155Ala)
NM_001040142.2(SCN2A):c.4640C>G (p.Thr1547Ser) rs2105398315
NM_001040142.2(SCN2A):c.4654A>G (p.Thr1552Ala)
NM_001040142.2(SCN2A):c.4655C>T (p.Thr1552Ile)
NM_001040142.2(SCN2A):c.4660G>T (p.Asp1554Tyr)
NM_001040142.2(SCN2A):c.4665G>C (p.Gln1555His)
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln) rs1553567130
NM_001040142.2(SCN2A):c.4672G>C (p.Glu1558Gln)
NM_001040142.2(SCN2A):c.4684A>G (p.Ile1562Val) rs779900992
NM_001040142.2(SCN2A):c.4693T>A (p.Trp1565Arg) rs1701902994
NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu) rs1558884200
NM_001040142.2(SCN2A):c.4736T>C (p.Val1579Ala) rs1384116109
NM_001040142.2(SCN2A):c.4748T>C (p.Ile1583Thr) rs367566833
NM_001040142.2(SCN2A):c.4757G>A (p.Arg1586His)
NM_001040142.2(SCN2A):c.476+6T>C
NM_001040142.2(SCN2A):c.4792G>T (p.Asp1598Tyr) rs2105398617
NM_001040142.2(SCN2A):c.4802T>C (p.Val1601Ala) rs1701908419
NM_001040142.2(SCN2A):c.4822+5G>A
NM_001040142.2(SCN2A):c.4827G>A (p.Met1609Ile) rs2105402003
NM_001040142.2(SCN2A):c.482C>A (p.Thr161Asn) rs2105243271
NM_001040142.2(SCN2A):c.4832T>A (p.Leu1611Gln) rs1701999328
NM_001040142.2(SCN2A):c.4840C>A (p.Leu1614Met)
NM_001040142.2(SCN2A):c.486T>A (p.Phe162Leu) rs1346837998
NM_001040142.2(SCN2A):c.4883T>C (p.Ile1628Thr) rs1553463420
NM_001040142.2(SCN2A):c.4892C>G (p.Ala1631Gly) rs1574751493
NM_001040142.2(SCN2A):c.4912C>A (p.Arg1638Ser) rs1702006147
NM_001040142.2(SCN2A):c.4912C>T (p.Arg1638Cys) rs1702006147
NM_001040142.2(SCN2A):c.4913_4914delinsCA (p.Arg1638Pro)
NM_001040142.2(SCN2A):c.4932G>C (p.Lys1644Asn)
NM_001040142.2(SCN2A):c.4940G>A (p.Arg1647His) rs797044927
NM_001040142.2(SCN2A):c.4940G>C (p.Arg1647Pro)
NM_001040142.2(SCN2A):c.4960A>G (p.Met1654Val)
NM_001040142.2(SCN2A):c.5005C>G (p.Leu1669Val) rs2105402420
NM_001040142.2(SCN2A):c.5027T>A (p.Ile1676Asn)
NM_001040142.2(SCN2A):c.5035A>G (p.Met1679Val)
NM_001040142.2(SCN2A):c.5042A>G (p.Asn1681Ser)
NM_001040142.2(SCN2A):c.5060G>A (p.Arg1687Lys) rs2105402498
NM_001040142.2(SCN2A):c.5066T>C (p.Val1689Ala) rs766554576
NM_001040142.2(SCN2A):c.5074G>A (p.Asp1692Asn) rs2105402518
NM_001040142.2(SCN2A):c.5080A>G (p.Met1694Val)
NM_001040142.2(SCN2A):c.5112G>C (p.Met1704Ile)
NM_001040142.2(SCN2A):c.5114T>C (p.Ile1705Thr) rs2105402552
NM_001040142.2(SCN2A):c.514A>G (p.Ile172Val)
NM_001040142.2(SCN2A):c.5167A>G (p.Ile1723Val)
NM_001040142.2(SCN2A):c.5175T>G (p.Asn1725Lys) rs1428775007
NM_001040142.2(SCN2A):c.5180G>C (p.Gly1727Ala)
NM_001040142.2(SCN2A):c.5180G>T (p.Gly1727Val) rs1702017827
NM_001040142.2(SCN2A):c.5182C>T (p.Pro1728Ser) rs2105402669
NM_001040142.2(SCN2A):c.5196C>A (p.Asp1732Glu) rs766372407
NM_001040142.2(SCN2A):c.51T>C (p.Phe17=)
NM_001040142.2(SCN2A):c.5219G>A (p.Ser1740Asn)
NM_001040142.2(SCN2A):c.5230G>A (p.Gly1744Arg) rs1553463570
NM_001040142.2(SCN2A):c.5236T>C (p.Cys1746Arg)
NM_001040142.2(SCN2A):c.5268T>A (p.Phe1756Leu) rs1702021533
NM_001040142.2(SCN2A):c.526G>T (p.Ala176Ser)
NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val) rs1702022330
NM_001040142.2(SCN2A):c.5281A>G (p.Ile1761Val) rs1574752573
NM_001040142.2(SCN2A):c.5341G>A (p.Val1781Ile) rs2105403003
NM_001040142.2(SCN2A):c.5342T>A (p.Val1781Asp) rs1702025029
NM_001040142.2(SCN2A):c.5359G>T (p.Ala1787Ser) rs760354266
NM_001040142.2(SCN2A):c.5364G>T (p.Glu1788Asp) rs199925238
NM_001040142.2(SCN2A):c.539G>A (p.Cys180Tyr) rs1064796281
NM_001040142.2(SCN2A):c.5419C>T (p.Pro1807Ser) rs1702027530
NM_001040142.2(SCN2A):c.5422G>A (p.Asp1808Asn)
NM_001040142.2(SCN2A):c.5423A>G (p.Asp1808Gly) rs1702028026
NM_001040142.2(SCN2A):c.5426C>T (p.Ala1809Val) rs1553463646
NM_001040142.2(SCN2A):c.5437A>G (p.Ile1813Val)
NM_001040142.2(SCN2A):c.543A>C (p.Leu181Phe) rs796053170
NM_001040142.2(SCN2A):c.544G>A (p.Glu182Lys)
NM_001040142.2(SCN2A):c.5452C>G (p.Leu1818Val)
NM_001040142.2(SCN2A):c.5465C>T (p.Ala1822Val) rs757542048
NM_001040142.2(SCN2A):c.5482C>G (p.Pro1828Ala) rs2105403223
NM_001040142.2(SCN2A):c.5488C>T (p.Leu1830Phe) rs1350014793
NM_001040142.2(SCN2A):c.5506A>C (p.Lys1836Gln)
NM_001040142.2(SCN2A):c.5506A>G (p.Lys1836Glu) rs779432244
NM_001040142.2(SCN2A):c.550T>A (p.Phe184Ile)
NM_001040142.2(SCN2A):c.5514G>C (p.Gln1838His) rs547095921
NM_001040142.2(SCN2A):c.5578G>C (p.Ala1860Pro)
NM_001040142.2(SCN2A):c.5591G>A (p.Arg1864His) rs1558886589
NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser)
NM_001040142.2(SCN2A):c.5603A>G (p.Glu1868Gly) rs1553463750
NM_001040142.2(SCN2A):c.5604G>C (p.Glu1868Asp) rs1166366442
NM_001040142.2(SCN2A):c.560T>C (p.Leu187Ser) rs2105243435
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.5629A>T (p.Ile1877Leu) rs1271110064
NM_001040142.2(SCN2A):c.563G>A (p.Arg188Gln)
NM_001040142.2(SCN2A):c.5654C>T (p.Ala1885Val) rs1553463800
NM_001040142.2(SCN2A):c.5662C>A (p.Pro1888Thr) rs1553463814
NM_001040142.2(SCN2A):c.5668A>G (p.Lys1890Glu) rs1553463817
NM_001040142.2(SCN2A):c.5675C>T (p.Ser1892Phe) rs1558886841
NM_001040142.2(SCN2A):c.5680G>A (p.Glu1894Lys)
NM_001040142.2(SCN2A):c.5681A>G (p.Glu1894Gly)
NM_001040142.2(SCN2A):c.5683C>A (p.Pro1895Thr)
NM_001040142.2(SCN2A):c.569C>T (p.Pro190Leu)
NM_001040142.2(SCN2A):c.5720T>C (p.Val1907Ala)
NM_001040142.2(SCN2A):c.5728A>G (p.Ile1910Val) rs52803844
NM_001040142.2(SCN2A):c.5729T>C (p.Ile1910Thr)
NM_001040142.2(SCN2A):c.5731A>G (p.Ile1911Val) rs372294906
NM_001040142.2(SCN2A):c.5732T>C (p.Ile1911Thr) rs2105403778
NM_001040142.2(SCN2A):c.5743G>A (p.Ala1915Thr)
NM_001040142.2(SCN2A):c.5744C>G (p.Ala1915Gly)
NM_001040142.2(SCN2A):c.5744C>T (p.Ala1915Val)
NM_001040142.2(SCN2A):c.5783T>C (p.Val1928Ala)
NM_001040142.2(SCN2A):c.5793A>G (p.Ile1931Met)
NM_001040142.2(SCN2A):c.5794T>C (p.Tyr1932His) rs2105403922
NM_001040142.2(SCN2A):c.5819G>A (p.Cys1940Tyr)
NM_001040142.2(SCN2A):c.5819G>T (p.Cys1940Phe) rs755792692
NM_001040142.2(SCN2A):c.5833A>G (p.Ile1945Val)
NM_001040142.2(SCN2A):c.5840A>C (p.Glu1947Ala) rs1702049382
NM_001040142.2(SCN2A):c.5852T>C (p.Ile1951Thr)
NM_001040142.2(SCN2A):c.5854G>A (p.Asp1952Asn) rs1163504197
NM_001040142.2(SCN2A):c.5866G>A (p.Glu1956Lys)
NM_001040142.2(SCN2A):c.5873C>G (p.Ser1958Ter) rs1558887309
NM_001040142.2(SCN2A):c.5878C>T (p.Pro1960Ser)
NM_001040142.2(SCN2A):c.5892T>A (p.Asp1964Glu) rs2105404198
NM_001040142.2(SCN2A):c.5897C>T (p.Thr1966Met) rs112098080
NM_001040142.2(SCN2A):c.589A>C (p.Thr197Pro) rs1311569054
NM_001040142.2(SCN2A):c.5903C>G (p.Ser1968Cys) rs773545024
NM_001040142.2(SCN2A):c.5908A>G (p.Thr1970Ala)
NM_001040142.2(SCN2A):c.5914C>G (p.Pro1972Ala)
NM_001040142.2(SCN2A):c.5924A>G (p.Tyr1975Cys) rs1574754722
NM_001040142.2(SCN2A):c.5942C>G (p.Pro1981Arg) rs752211376
NM_001040142.2(SCN2A):c.5962A>G (p.Lys1988Glu) rs1553463946
NM_001040142.2(SCN2A):c.5984A>G (p.Asp1995Gly) rs1574754954
NM_001040142.2(SCN2A):c.6007A>G (p.Ser2003Gly) rs1389700505
NM_001040142.2(SCN2A):c.6016_*4del (p.Ter2006LysextTer?) rs1574755053
NM_001040142.2(SCN2A):c.602T>C (p.Phe201Ser) rs1553567406
NM_001040142.2(SCN2A):c.605+3A>G
NM_001040142.2(SCN2A):c.605+4_605+7del rs1697274160
NM_001040142.2(SCN2A):c.606-16_606-3del
NM_001040142.2(SCN2A):c.608A>T (p.Tyr203Phe)
NM_001040142.2(SCN2A):c.643G>A (p.Ala215Thr) rs1131691927
NM_001040142.2(SCN2A):c.644C>T (p.Ala215Val)
NM_001040142.2(SCN2A):c.679A>C (p.Thr227Pro) rs1559352572
NM_001040142.2(SCN2A):c.679A>G (p.Thr227Ala) rs1559352572
NM_001040142.2(SCN2A):c.688G>A (p.Val230Ile) rs1697315910
NM_001040142.2(SCN2A):c.729G>C (p.Gln243His) rs1697361678
NM_001040142.2(SCN2A):c.737A>G (p.Lys246Arg) rs746181150
NM_001040142.2(SCN2A):c.742C>A (p.Leu248Ile) rs1697362478
NM_001040142.2(SCN2A):c.74T>C (p.Ile25Thr) rs1366486532
NM_001040142.2(SCN2A):c.754A>T (p.Met252Leu) rs387906687
NM_001040142.2(SCN2A):c.755T>C (p.Met252Thr) rs1697363337
NM_001040142.2(SCN2A):c.761T>G (p.Leu254Trp)
NM_001040142.2(SCN2A):c.769T>A (p.Phe257Ile)
NM_001040142.2(SCN2A):c.787G>C (p.Ala263Pro) rs1697364931
NM_001040142.2(SCN2A):c.794T>C (p.Ile265Thr) rs1697365527
NM_001040142.2(SCN2A):c.802C>A (p.Gln268Lys)
NM_001040142.2(SCN2A):c.811A>G (p.Met271Val) rs1553567946
NM_001040142.2(SCN2A):c.813G>C (p.Met271Ile) rs1553567950
NM_001040142.2(SCN2A):c.824G>A (p.Arg275Gln) rs1697366992
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) rs765714006
NM_001040142.2(SCN2A):c.854A>G (p.Asn285Ser)
NM_001040142.2(SCN2A):c.88G>A (p.Ala30Thr) rs1337092354
NM_001040142.2(SCN2A):c.890A>G (p.Asn297Ser) rs796053174
NM_001040142.2(SCN2A):c.893A>G (p.Asn298Ser)
NM_001040142.2(SCN2A):c.8A>G (p.Gln3Arg)
NM_001040142.2(SCN2A):c.906G>T (p.Gly302=) rs1697371206
NM_001040142.2(SCN2A):c.911G>T (p.Gly304Val)
NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.921C>G (p.Phe307Leu) rs1553568092
NM_001040142.2(SCN2A):c.974A>G (p.His325Arg) rs2105251421

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