ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 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.5121G>A (p.Leu1707=) rs377063535 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553 0.00008
NM_001040142.2(SCN2A):c.5836_5838del (p.Lys1946del) rs770838929 0.00007
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) rs201124054 0.00006
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.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 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.2023A>G (p.Thr675Ala) rs371601218 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573 0.00002
NM_001040142.2(SCN2A):c.2219A>G (p.Asp740Gly) rs747869260 0.00002
NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=) rs1292645984 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.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001040142.2(SCN2A):c.451C>T (p.Pro151Ser) rs200109956 0.00002
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001040142.2(SCN2A):c.5843A>T (p.Asp1948Val) rs770684740 0.00002
NM_001040142.2(SCN2A):c.901G>A (p.Asp301Asn) rs1432098565 0.00002
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987 0.00001
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His) rs754993031 0.00001
NM_001040142.2(SCN2A):c.1421T>A (p.Phe474Tyr) rs1290568199 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.1504A>G (p.Lys502Glu) rs1418215188 0.00001
NM_001040142.2(SCN2A):c.1558A>T (p.Asn520Tyr) rs746957483 0.00001
NM_001040142.2(SCN2A):c.1577C>T (p.Ser526Leu) rs749504084 0.00001
NM_001040142.2(SCN2A):c.1598G>A (p.Arg533Lys) rs1057520163 0.00001
NM_001040142.2(SCN2A):c.1661C>T (p.Ser554Phe) rs764865753 0.00001
NM_001040142.2(SCN2A):c.1711C>T (p.Arg571Cys) rs750049844 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.1846A>G (p.Arg616Gly) rs772896106 0.00001
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996 0.00001
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro) rs558887330 0.00001
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614 0.00001
NM_001040142.2(SCN2A):c.1969G>A (p.Val657Ile) rs770573856 0.00001
NM_001040142.2(SCN2A):c.2001G>C (p.Gly667=) rs1323805020 0.00001
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771 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.2236T>G (p.Leu746Val) rs772195737 0.00001
NM_001040142.2(SCN2A):c.2251C>T (p.Leu751Phe) rs1085307603 0.00001
NM_001040142.2(SCN2A):c.2278T>A (p.Phe760Ile) rs775759603 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.3026G>A (p.Arg1009Lys) rs1325204872 0.00001
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) rs769267899 0.00001
NM_001040142.2(SCN2A):c.3083C>G (p.Ala1028Gly) rs553589945 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.3190G>T (p.Asp1064Tyr) rs769395683 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 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.3400-7T>C rs1469952990 0.00001
NM_001040142.2(SCN2A):c.3434C>T (p.Thr1145Met) rs796053128 0.00001
NM_001040142.2(SCN2A):c.3443T>C (p.Ile1148Thr) rs1276761608 0.00001
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln) rs773202451 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.3670G>T (p.Ala1224Ser) rs780330020 0.00001
NM_001040142.2(SCN2A):c.3689T>C (p.Ile1230Thr) rs777751518 0.00001
NM_001040142.2(SCN2A):c.3704G>A (p.Arg1235Gln) rs1277341116 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.4129G>T (p.Val1377Leu) rs1407740477 0.00001
NM_001040142.2(SCN2A):c.4169T>C (p.Ile1390Thr) rs758703434 0.00001
NM_001040142.2(SCN2A):c.4414A>G (p.Ile1472Val) rs368657915 0.00001
NM_001040142.2(SCN2A):c.4683C>G (p.Asn1561Lys) rs1379550929 0.00001
NM_001040142.2(SCN2A):c.4715T>C (p.Val1572Ala) rs1701903914 0.00001
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr) rs199641159 0.00001
NM_001040142.2(SCN2A):c.5047G>T (p.Ala1683Ser) rs764538126 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 0.00001
NM_001040142.2(SCN2A):c.5412G>T (p.Lys1804Asn) rs759697991 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880 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.5889C>T (p.Thr1963=) rs776509462 0.00001
NM_001040142.2(SCN2A):c.5951A>T (p.Glu1984Val) rs1260472813 0.00001
NM_001040142.2(SCN2A):c.697+3G>A rs754960917 0.00001
NM_001040142.2(SCN2A):c.745T>A (p.Ser249Thr) rs1210217208 0.00001
NM_001040142.2(SCN2A):c.76G>C (p.Glu26Gln) rs1439524882 0.00001
NM_001040142.2(SCN2A):c.818A>G (p.Asn273Ser) rs1697366709 0.00001
NM_001371246.1(SCN2A):c.649C>T (p.Arg217Ter) rs558474027 0.00001
NM_001040142.2(SCN2A):c.-51-1637G>T
NM_001040142.2(SCN2A):c.1030G>A (p.Ala344Thr) rs2105251522
NM_001040142.2(SCN2A):c.1048G>A (p.Gly350Arg) rs1553568731
NM_001040142.2(SCN2A):c.1055T>C (p.Ile352Thr) rs796053176
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1076A>G (p.Asn359Ser) rs746393224
NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)
NM_001040142.2(SCN2A):c.1108T>G (p.Phe370Val) rs796053177
NM_001040142.2(SCN2A):c.1109T>G (p.Phe370Cys)
NM_001040142.2(SCN2A):c.113A>C (p.Lys38Thr)
NM_001040142.2(SCN2A):c.1177A>G (p.Thr393Ala)
NM_001040142.2(SCN2A):c.1186G>T (p.Ala396Ser) rs768191357
NM_001040142.2(SCN2A):c.1209A>G (p.Ile403Met)
NM_001040142.2(SCN2A):c.122G>T (p.Arg41Leu) rs754993031
NM_001040142.2(SCN2A):c.1263G>A (p.Leu421=)
NM_001040142.2(SCN2A):c.1272G>A (p.Val424=)
NM_001040142.2(SCN2A):c.1280C>A (p.Ala427Asp) rs587780448
NM_001040142.2(SCN2A):c.1303A>G (p.Thr435Ala)
NM_001040142.2(SCN2A):c.1313A>T (p.Glu438Val) rs1553569017
NM_001040142.2(SCN2A):c.134A>T (p.Asp45Val) rs748331725
NM_001040142.2(SCN2A):c.1370AAG[2] (p.Glu459del)
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.1396_1401dup (p.Ala466_Ala467dup) rs754615123
NM_001040142.2(SCN2A):c.1397C>T (p.Ala466Val) rs796053185
NM_001040142.2(SCN2A):c.1399G>C (p.Ala467Pro)
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser) rs745774658
NM_001040142.2(SCN2A):c.1400C>T (p.Ala467Val) rs2105259518
NM_001040142.2(SCN2A):c.1412C>T (p.Ser471Leu) rs2105259560
NM_001040142.2(SCN2A):c.1417G>C (p.Asp473His)
NM_001040142.2(SCN2A):c.1433G>A (p.Gly478Asp) rs2105259619
NM_001040142.2(SCN2A):c.1439T>C (p.Ile480Thr)
NM_001040142.2(SCN2A):c.1448T>C (p.Phe483Ser) rs2105259678
NM_001040142.2(SCN2A):c.1474A>C (p.Lys492Gln)
NM_001040142.2(SCN2A):c.149C>A (p.Pro50Gln) rs2106149256
NM_001040142.2(SCN2A):c.1530G>T (p.Gln510His) rs796053204
NM_001040142.2(SCN2A):c.1544G>C (p.Gly515Ala)
NM_001040142.2(SCN2A):c.1589A>G (p.Asp530Gly)
NM_001040142.2(SCN2A):c.160A>G (p.Ser54Gly) rs557687080
NM_001040142.2(SCN2A):c.1635G>T (p.Arg545Ser) rs1478414510
NM_001040142.2(SCN2A):c.1639A>C (p.Thr547Pro)
NM_001040142.2(SCN2A):c.1670A>C (p.Gln557Pro)
NM_001040142.2(SCN2A):c.1682G>A (p.Ser561Asn) rs1574591292
NM_001040142.2(SCN2A):c.1728C>G (p.Ser576Arg) rs1382196994
NM_001040142.2(SCN2A):c.1729C>A (p.Leu577Ile) rs796053187
NM_001040142.2(SCN2A):c.1729C>G (p.Leu577Val)
NM_001040142.2(SCN2A):c.1770G>C (p.Glu590Asp) rs1698165169
NM_001040142.2(SCN2A):c.1779T>G (p.Phe593Leu)
NM_001040142.2(SCN2A):c.1793A>G (p.His598Arg)
NM_001040142.2(SCN2A):c.1814A>C (p.Asp605Ala) rs2105276908
NM_001040142.2(SCN2A):c.1835T>C (p.Phe612Ser) rs796053188
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.187C>T (p.Pro63Ser) rs1064797259
NM_001040142.2(SCN2A):c.1900G>T (p.Val634Leu)
NM_001040142.2(SCN2A):c.1907C>T (p.Pro636Leu)
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.1921A>G (p.Asn641Asp)
NM_001040142.2(SCN2A):c.1925G>A (p.Gly642Glu) rs2105277170
NM_001040142.2(SCN2A):c.1972G>A (p.Gly658Arg) rs767183298
NM_001040142.2(SCN2A):c.1972G>T (p.Gly658Trp) rs767183298
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.1996G>T (p.Ala666Ser)
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.2044A>G (p.Lys682Glu) rs1057520113
NM_001040142.2(SCN2A):c.2047A>G (p.Arg683Gly) rs1553573071
NM_001040142.2(SCN2A):c.2054C>G (p.Ser685Cys)
NM_001040142.2(SCN2A):c.2057G>C (p.Ser686Thr)
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile) rs796053190
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.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile) rs1060503100
NM_001040142.2(SCN2A):c.2149+5G>A rs773024189
NM_001040142.2(SCN2A):c.2152C>T (p.Leu718Phe) rs2105293240
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.2179C>T (p.Pro727Ser) rs1339703326
NM_001040142.2(SCN2A):c.2204T>C (p.Met735Thr) rs924845392
NM_001040142.2(SCN2A):c.2275C>A (p.Pro759Thr) rs1553574652
NM_001040142.2(SCN2A):c.2279T>A (p.Phe760Tyr) rs1698669420
NM_001040142.2(SCN2A):c.2281G>C (p.Val761Leu) rs2105293473
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.2332A>G (p.Met778Val)
NM_001040142.2(SCN2A):c.2351C>T (p.Thr784Met) rs758872788
NM_001040142.2(SCN2A):c.235G>C (p.Glu79Gln) rs1402926276
NM_001040142.2(SCN2A):c.2388+5G>C
NM_001040142.2(SCN2A):c.23C>A (p.Pro8Gln) rs747139785
NM_001040142.2(SCN2A):c.2403C>G (p.Ile801Met) rs572550754
NM_001040142.2(SCN2A):c.2404T>G (p.Phe802Val)
NM_001040142.2(SCN2A):c.2446T>C (p.Tyr816His) rs2105314799
NM_001040142.2(SCN2A):c.260A>G (p.Asn87Ser) rs2106149436
NM_001040142.2(SCN2A):c.2617A>C (p.Ile873Leu)
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val) rs1699475919
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2654_2671del (p.Thr885_Ile890del)
NM_001040142.2(SCN2A):c.268-5T>A rs2106151084
NM_001040142.2(SCN2A):c.2684T>A (p.Phe895Tyr) rs1421192666
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2730T>G (p.Cys910Trp)
NM_001040142.2(SCN2A):c.2738A>G (p.Lys913Arg)
NM_001040142.2(SCN2A):c.2749G>A (p.Asp917Asn)
NM_001040142.2(SCN2A):c.276A>G (p.Ile92Met) rs761549438
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2779G>T (p.Asp927Tyr)
NM_001040142.2(SCN2A):c.2812G>A (p.Val938Met)
NM_001040142.2(SCN2A):c.2884G>A (p.Val962Ile)
NM_001040142.2(SCN2A):c.289G>T (p.Gly97Trp) rs2106151134
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001040142.2(SCN2A):c.2940C>G (p.Ala980=) rs1574664203
NM_001040142.2(SCN2A):c.2950A>C (p.Ser984Arg) rs1700069881
NM_001040142.2(SCN2A):c.2962T>C (p.Ser988Pro) rs796053125
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.3017C>T (p.Ala1006Val) rs1700072264
NM_001040142.2(SCN2A):c.3019G>A (p.Val1007Met) rs1574664452
NM_001040142.2(SCN2A):c.3023G>A (p.Gly1008Glu) rs1131691300
NM_001040142.2(SCN2A):c.3032A>C (p.Gln1011Pro) rs2105336944
NM_001040142.2(SCN2A):c.3038G>T (p.Gly1013Val)
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3061A>T (p.Ile1021Leu) rs1700074563
NM_001040142.2(SCN2A):c.3109G>A (p.Asp1037Asn) rs926542477
NM_001040142.2(SCN2A):c.311G>A (p.Ser104Asn) rs139756067
NM_001040142.2(SCN2A):c.3154T>C (p.Cys1052Arg) rs2105337207
NM_001040142.2(SCN2A):c.3164A>G (p.Asn1055Ser)
NM_001040142.2(SCN2A):c.319C>T (p.Pro107Ser) rs1180045562
NM_001040142.2(SCN2A):c.31C>G (p.Pro11Ala) rs2106148959
NM_001040142.2(SCN2A):c.3230G>A (p.Gly1077Asp)
NM_001040142.2(SCN2A):c.3251A>G (p.Lys1084Arg) rs1445312692
NM_001040142.2(SCN2A):c.3253T>G (p.Tyr1085Asp) rs1200722165
NM_001040142.2(SCN2A):c.3285T>A (p.Phe1095Leu)
NM_001040142.2(SCN2A):c.328T>C (p.Tyr110His) rs2106151181
NM_001040142.2(SCN2A):c.3305C>T (p.Thr1102Ile)
NM_001040142.2(SCN2A):c.331A>G (p.Ile111Val)
NM_001040142.2(SCN2A):c.3333A>C (p.Glu1111Asp)
NM_001040142.2(SCN2A):c.3333A>T (p.Glu1111Asp) rs2105337534
NM_001040142.2(SCN2A):c.3344A>C (p.Glu1115Ala) rs2105337543
NM_001040142.2(SCN2A):c.3347A>C (p.Asn1116Thr)
NM_001040142.2(SCN2A):c.3393C>A (p.Ser1131Arg) rs2105337618
NM_001040142.2(SCN2A):c.3395A>C (p.Lys1132Thr) rs2105337628
NM_001040142.2(SCN2A):c.3428G>T (p.Gly1143Val) rs1287436433
NM_001040142.2(SCN2A):c.3431G>A (p.Ser1144Asn)
NM_001040142.2(SCN2A):c.3440A>C (p.Asp1147Ala) rs1700658194
NM_001040142.2(SCN2A):c.3446G>A (p.Gly1149Glu) rs771772014
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.3463G>C (p.Glu1155Gln) rs1553589022
NM_001040142.2(SCN2A):c.3478G>A (p.Glu1160Lys)
NM_001040142.2(SCN2A):c.3494T>A (p.Leu1165His)
NM_001040142.2(SCN2A):c.3506C>A (p.Ala1169Asp)
NM_001040142.2(SCN2A):c.3521-3T>G
NM_001040142.2(SCN2A):c.3524G>A (p.Cys1175Tyr)
NM_001040142.2(SCN2A):c.3526G>A (p.Val1176Ile)
NM_001040142.2(SCN2A):c.3533A>T (p.Lys1178Met)
NM_001040142.2(SCN2A):c.3547C>G (p.Gln1183Glu) rs775814612
NM_001040142.2(SCN2A):c.3550A>G (p.Ile1184Val) rs1553590122
NM_001040142.2(SCN2A):c.3557T>C (p.Ile1186Thr)
NM_001040142.2(SCN2A):c.3558A>G (p.Ile1186Met) rs2105359590
NM_001040142.2(SCN2A):c.3559G>A (p.Glu1187Lys)
NM_001040142.2(SCN2A):c.3601T>G (p.Cys1201Gly)
NM_001040142.2(SCN2A):c.3623A>C (p.Asn1208Thr)
NM_001040142.2(SCN2A):c.3643G>T (p.Val1215Phe) rs1064795832
NM_001040142.2(SCN2A):c.3671C>T (p.Ala1224Val) rs2105359828
NM_001040142.2(SCN2A):c.367A>G (p.Ile123Val) rs1396703741
NM_001040142.2(SCN2A):c.3682G>A (p.Glu1228Lys) rs1553591718
NM_001040142.2(SCN2A):c.3691T>C (p.Tyr1231His) rs1298081979
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.3726A>T (p.Leu1242Phe) rs1553591763
NM_001040142.2(SCN2A):c.3754A>C (p.Ile1252Leu)
NM_001040142.2(SCN2A):c.3788C>T (p.Ala1263Val) rs1559395534
NM_001040142.2(SCN2A):c.37A>G (p.Ser13Gly) rs2106148981
NM_001040142.2(SCN2A):c.3842T>C (p.Ile1281Thr) rs2105365371
NM_001040142.2(SCN2A):c.386+6C>T rs1696552225
NM_001040142.2(SCN2A):c.386+6del rs2106151278
NM_001040142.2(SCN2A):c.3869C>T (p.Thr1290Ile) rs1701137468
NM_001040142.2(SCN2A):c.387T>A (p.Ser129=) rs1064797260
NM_001040142.2(SCN2A):c.3884G>A (p.Gly1295Asp) rs2105370652
NM_001040142.2(SCN2A):c.3951G>C (p.Leu1317Phe) rs1574712189
NM_001040142.2(SCN2A):c.4095T>G (p.His1365Gln)
NM_001040142.2(SCN2A):c.413C>G (p.Thr138Arg) rs764044312
NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly) rs794727364
NM_001040142.2(SCN2A):c.4160A>G (p.Lys1387Arg)
NM_001040142.2(SCN2A):c.4231G>C (p.Gly1411Arg) rs1553593860
NM_001040142.2(SCN2A):c.4254+5G>A rs587780451
NM_001040142.2(SCN2A):c.425A>G (p.Asn142Ser)
NM_001040142.2(SCN2A):c.4303C>G (p.Arg1435Gly) rs796053138
NM_001040142.2(SCN2A):c.4321C>T (p.Pro1441Ser) rs796053141
NM_001040142.2(SCN2A):c.4322C>G (p.Pro1441Arg)
NM_001040142.2(SCN2A):c.4345A>C (p.Met1449Leu)
NM_001040142.2(SCN2A):c.4369A>G (p.Ile1457Val) rs796053142
NM_001040142.2(SCN2A):c.437T>C (p.Met146Thr)
NM_001040142.2(SCN2A):c.43C>T (p.Arg15Cys)
NM_001040142.2(SCN2A):c.4446+5G>A
NM_001040142.2(SCN2A):c.4483A>G (p.Lys1495Glu) rs1553462214
NM_001040142.2(SCN2A):c.451C>G (p.Pro151Ala) rs200109956
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001040142.2(SCN2A):c.4535C>A (p.Pro1512His) rs2105385911
NM_001040142.2(SCN2A):c.4551+8T>A rs1064797263
NM_001040142.2(SCN2A):c.4575T>G (p.Phe1525Leu) rs1574746559
NM_001040142.2(SCN2A):c.4576G>C (p.Asp1526His)
NM_001040142.2(SCN2A):c.4581T>G (p.Phe1527Leu)
NM_001040142.2(SCN2A):c.4593A>T (p.Gln1531His) rs2105398231
NM_001040142.2(SCN2A):c.4603A>G (p.Ile1535Val) rs1701897899
NM_001040142.2(SCN2A):c.4607G>A (p.Ser1536Asn) rs1044510361
NM_001040142.2(SCN2A):c.4612A>G (p.Met1538Val) rs796053147
NM_001040142.2(SCN2A):c.4625G>C (p.Cys1542Ser)
NM_001040142.2(SCN2A):c.4657G>A (p.Asp1553Asn) rs938310933
NM_001040142.2(SCN2A):c.4661A>G (p.Asp1554Gly) rs796053200
NM_001040142.2(SCN2A):c.4667G>C (p.Ser1556Thr)
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln) rs1553567130
NM_001040142.2(SCN2A):c.4693T>A (p.Trp1565Arg) rs1701902994
NM_001040142.2(SCN2A):c.4705G>A (p.Val1569Met)
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.4804G>A (p.Val1602Ile) rs1331552676
NM_001040142.2(SCN2A):c.482delinsAATT (p.Thr161delinsLysPhe)
NM_001040142.2(SCN2A):c.4895G>A (p.Arg1632Lys) rs796053158
NM_001040142.2(SCN2A):c.4925G>C (p.Gly1642Ala)
NM_001040142.2(SCN2A):c.4932G>C (p.Lys1644Asn)
NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr) rs2105402379
NM_001040142.2(SCN2A):c.4992C>T (p.Gly1664=) rs1411813809
NM_001040142.2(SCN2A):c.5004C>T (p.Phe1668=) rs886044285
NM_001040142.2(SCN2A):c.5021A>G (p.Tyr1674Cys)
NM_001040142.2(SCN2A):c.5039C>T (p.Ser1680Phe) rs2105402462
NM_001040142.2(SCN2A):c.5043T>G (p.Asn1681Lys) rs770118417
NM_001040142.2(SCN2A):c.5051A>G (p.Tyr1684Cys) rs2105402488
NM_001040142.2(SCN2A):c.5064A>T (p.Glu1688Asp) rs1064793261
NM_001040142.2(SCN2A):c.5065G>C (p.Val1689Leu) rs796053161
NM_001040142.2(SCN2A):c.5066T>C (p.Val1689Ala) rs766554576
NM_001040142.2(SCN2A):c.5167A>G (p.Ile1723Val)
NM_001040142.2(SCN2A):c.5174A>G (p.Asn1725Ser) rs1352067101
NM_001040142.2(SCN2A):c.5175T>G (p.Asn1725Lys) rs1428775007
NM_001040142.2(SCN2A):c.5180G>C (p.Gly1727Ala)
NM_001040142.2(SCN2A):c.5189A>T (p.Asp1730Val)
NM_001040142.2(SCN2A):c.5204A>G (p.Lys1735Arg) rs2105402727
NM_001040142.2(SCN2A):c.5211C>A (p.His1737Gln)
NM_001040142.2(SCN2A):c.527C>T (p.Ala176Val)
NM_001040142.2(SCN2A):c.5281A>G (p.Ile1761Val) rs1574752573
NM_001040142.2(SCN2A):c.5287T>A (p.Ser1763Thr) rs2105402930
NM_001040142.2(SCN2A):c.5317_5325del (p.Ala1773_Ile1775del) rs1553463597
NM_001040142.2(SCN2A):c.5327T>C (p.Leu1776Pro) rs2105402988
NM_001040142.2(SCN2A):c.5339G>A (p.Ser1780Asn) rs796053163
NM_001040142.2(SCN2A):c.539G>A (p.Cys180Tyr) rs1064796281
NM_001040142.2(SCN2A):c.5422G>C (p.Asp1808His)
NM_001040142.2(SCN2A):c.542T>C (p.Leu181Ser)
NM_001040142.2(SCN2A):c.5434T>A (p.Phe1812Ile) rs796053164
NM_001040142.2(SCN2A):c.5438T>C (p.Ile1813Thr) rs1702029075
NM_001040142.2(SCN2A):c.543A>C (p.Leu181Phe) rs796053170
NM_001040142.2(SCN2A):c.543A>G (p.Leu181=) rs796053170
NM_001040142.2(SCN2A):c.544_546delinsAAG (p.Glu182Lys) rs2105243388
NM_001040142.2(SCN2A):c.5456C>T (p.Ser1819Phe) rs1354374353
NM_001040142.2(SCN2A):c.5465C>T (p.Ala1822Val) rs757542048
NM_001040142.2(SCN2A):c.5467G>A (p.Asp1823Asn)
NM_001040142.2(SCN2A):c.5480CTC[3] (p.Pro1828dup) rs1553463673
NM_001040142.2(SCN2A):c.5493A>G (p.Ile1831Met) rs1553463680
NM_001040142.2(SCN2A):c.5506A>G (p.Lys1836Glu) rs779432244
NM_001040142.2(SCN2A):c.5514G>C (p.Gln1838His) rs547095921
NM_001040142.2(SCN2A):c.5518A>T (p.Ile1840Phe)
NM_001040142.2(SCN2A):c.5529T>A (p.Asp1843Glu)
NM_001040142.2(SCN2A):c.5529T>G (p.Asp1843Glu) rs2105403324
NM_001040142.2(SCN2A):c.5531T>C (p.Leu1844Pro) rs1574753240
NM_001040142.2(SCN2A):c.5545G>C (p.Gly1849Arg) rs1553463708
NM_001040142.2(SCN2A):c.5550C>A (p.Asp1850Glu) rs1553463712
NM_001040142.2(SCN2A):c.5563C>A (p.Leu1855Ile) rs2105403397
NM_001040142.2(SCN2A):c.5568C>A (p.Asp1856Glu)
NM_001040142.2(SCN2A):c.5579C>G (p.Ala1860Gly) rs2105403423
NM_001040142.2(SCN2A):c.5591G>A (p.Arg1864His) rs1558886589
NM_001040142.2(SCN2A):c.5604G>C (p.Glu1868Asp) rs1166366442
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.563G>A (p.Arg188Gln)
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn) rs1702040004
NM_001040142.2(SCN2A):c.5680G>A (p.Glu1894Lys)
NM_001040142.2(SCN2A):c.5680G>C (p.Glu1894Gln) rs1393820493
NM_001040142.2(SCN2A):c.5690C>T (p.Thr1897Met) rs1310973051
NM_001040142.2(SCN2A):c.5720T>C (p.Val1907Ala)
NM_001040142.2(SCN2A):c.5728A>G (p.Ile1910Val) rs52803844
NM_001040142.2(SCN2A):c.5732T>C (p.Ile1911Thr) rs2105403778
NM_001040142.2(SCN2A):c.5752C>A (p.Arg1918Ser) rs139899756
NM_001040142.2(SCN2A):c.580T>C (p.Leu194=) rs1015952309
NM_001040142.2(SCN2A):c.5819G>T (p.Cys1940Phe) rs755792692
NM_001040142.2(SCN2A):c.5836_5848del (p.Lys1946fs)
NM_001040142.2(SCN2A):c.5846C>T (p.Thr1949Ile)
NM_001040142.2(SCN2A):c.5854G>A (p.Asp1952Asn) rs1163504197
NM_001040142.2(SCN2A):c.5855A>G (p.Asp1952Gly)
NM_001040142.2(SCN2A):c.5866_5871del (p.Glu1956_Asn1957del)
NM_001040142.2(SCN2A):c.5873C>A (p.Ser1958Ter) rs1558887309
NM_001040142.2(SCN2A):c.5882A>G (p.Glu1961Gly)
NM_001040142.2(SCN2A):c.5897C>T (p.Thr1966Met) rs112098080
NM_001040142.2(SCN2A):c.5903C>G (p.Ser1968Cys) rs773545024
NM_001040142.2(SCN2A):c.5905A>G (p.Thr1969Ala) rs1553463915
NM_001040142.2(SCN2A):c.5942C>G (p.Pro1981Arg) rs752211376
NM_001040142.2(SCN2A):c.605+4_605+7del rs1697274160
NM_001040142.2(SCN2A):c.605+7A>G rs1064797261
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040142.2(SCN2A):c.629T>G (p.Leu210Arg) rs1559352517
NM_001040142.2(SCN2A):c.697G>C (p.Gly233Arg) rs2105245106
NM_001040142.2(SCN2A):c.710T>G (p.Ile237Ser)
NM_001040142.2(SCN2A):c.742C>A (p.Leu248Ile) rs1697362478
NM_001040142.2(SCN2A):c.74T>G (p.Ile25Ser) rs1366486532
NM_001040142.2(SCN2A):c.765T>C (p.Thr255=) rs1064797262
NM_001040142.2(SCN2A):c.811A>G (p.Met271Val) rs1553567946
NM_001040142.2(SCN2A):c.816C>A (p.Gly272=) rs2105247434
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001040142.2(SCN2A):c.81A>T (p.Gln27His) rs1162322343
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) rs765714006
NM_001040142.2(SCN2A):c.859T>C (p.Ser287Pro)
NM_001040142.2(SCN2A):c.890A>G (p.Asn297Ser) rs796053174
NM_001040142.2(SCN2A):c.896C>T (p.Ser299Leu) rs767386387
NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.91G>A (p.Glu31Lys)
NM_001371246.1(SCN2A):c.640T>C (p.Ser214Pro) rs1553567482
NM_021007.3(SCN2A):c.5249C>A (p.Ser1750Tyr) rs2105402840

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