ClinVar Miner

List of variants in gene SCN2A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 791
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2016+337T>A rs777139 0.98971
NM_001040142.2(SCN2A):c.3972+65T>C rs6432821 0.98885
NM_001040142.2(SCN2A):c.-51-172T>C rs353126 0.96582
NM_001040142.2(SCN2A):c.268-28A>G rs7593568 0.82099
NM_001040142.2(SCN2A):c.1671+49A>G rs1838846 0.82025
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_001040142.2(SCN2A):c.-51-98A>G rs2075704 0.81154
NM_001040142.2(SCN2A):c.1672-309C>A rs1816918 0.81060
NM_001040142.2(SCN2A):c.477-289G>A rs1965757 0.80568
NM_001040142.2(SCN2A):c.3399+234C>T rs10191771 0.73476
NM_001040142.2(SCN2A):c.4447-106T>C rs7578237 0.72685
NM_001040142.2(SCN2A):c.2150-306T>C rs7596027 0.71747
NM_001040142.2(SCN2A):c.1672-16C>T rs1867864 0.56164
NM_001040142.2(SCN2A):c.2017-148G>T rs12993173 0.56088
NM_001040142.2(SCN2A):c.2562+305T>A rs3769949 0.44271
NM_001040142.2(SCN2A):c.3849+298A>G rs1469649 0.42948
NM_001040142.2(SCN2A):c.3675+166G>A rs2304010 0.42659
NM_001040142.2(SCN2A):c.3676-278G>C rs59934051 0.42653
NM_001040142.2(SCN2A):c.3849+169A>G rs2304012 0.38380
NM_001040142.2(SCN2A):c.3850-339A>G rs1560626 0.38367
NM_001040142.2(SCN2A):c.4309-231del rs67443324 0.37564
NM_001040142.2(SCN2A):c.4551+327T>C rs7581427 0.29666
NM_001040142.2(SCN2A):c.698-161C>T rs2116658 0.29586
NM_001040142.2(SCN2A):c.3850-226C>T rs12692768 0.28892
NM_001040142.2(SCN2A):c.4254+158A>G rs1368238 0.28873
NM_001040142.2(SCN2A):c.3400-71C>T rs3769951 0.25592
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_001040142.2(SCN2A):c.3400-344A>G rs3769950 0.24108
NM_001040142.2(SCN2A):c.970+61T>A rs7560348 0.23243
NM_001040142.2(SCN2A):c.3849+241T>G rs2304013 0.21153
NM_001040142.2(SCN2A):c.268-266T>C rs12468669 0.21116
NM_001040142.2(SCN2A):c.2389-280A>G rs62174667 0.20327
NM_001040142.2(SCN2A):c.2563-184A>G rs3943809 0.20326
NM_001040142.2(SCN2A):c.4551+318del rs77422519 0.20303
NM_001040142.2(SCN2A):c.4255-31A>G rs1864885 0.20300
NM_001040142.2(SCN2A):c.3972+73T>A rs2304014 0.16857
NM_001040142.2(SCN2A):c.1035-57A>G rs13025009 0.15226
NM_001040142.2(SCN2A):c.2149+83C>T rs17184707 0.14913
NM_001040142.2(SCN2A):c.3675+224A>C rs3816000 0.13773
NM_001040142.2(SCN2A):c.2150-205T>G rs2304017 0.13767
NM_001040142.2(SCN2A):c.3675+294G>C rs6738837 0.13750
NM_001040142.2(SCN2A):c.2149+196C>T rs7569870 0.11330
NM_001040142.2(SCN2A):c.2149+195C>G rs7569869 0.11317
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_001040142.2(SCN2A):c.4822+48A>G rs6724440 0.04311
NM_001040142.2(SCN2A):c.4822+311T>C rs6714217 0.04307
NM_001040142.2(SCN2A):c.4552-259A>G rs28611420 0.04306
NM_001040142.2(SCN2A):c.4309-210T>G rs10207897 0.04305
NM_001040142.2(SCN2A):c.2563-163T>C rs73025906 0.03818
NM_001040142.2(SCN2A):c.2017-89A>G rs74598858 0.03512
NM_001040142.2(SCN2A):c.1035-298T>A rs3816001 0.03371
NM_001040142.2(SCN2A):c.2919+240T>A rs57398893 0.03244
NM_001040142.2(SCN2A):c.3676-55A>G rs72874371 0.03221
NM_001040142.2(SCN2A):c.1035-163A>G rs17244080 0.03211
NM_001040142.2(SCN2A):c.268-252A>G rs73023741 0.02905
NM_001040142.2(SCN2A):c.267+51G>A rs111535588 0.02584
NM_001040142.2(SCN2A):c.4308+205A>G rs113651098 0.02008
NM_001040142.2(SCN2A):c.1383+189A>C rs73023770 0.01872
NM_001040142.2(SCN2A):c.4255-92T>C rs73969390 0.01759
NM_001040142.2(SCN2A):c.4308+286C>G rs73969392 0.01755
NM_001040142.2(SCN2A):c.4308+283T>A rs73969391 0.01753
NM_001040142.2(SCN2A):c.4308+208T>C rs11898900 0.01706
NM_001040142.2(SCN2A):c.3850-330C>T rs73969388 0.01681
NM_001040142.2(SCN2A):c.2150-67T>C rs56246310 0.01542
NM_001040142.2(SCN2A):c.387-99G>T rs73023764 0.01372
NM_001040142.2(SCN2A):c.268-280G>A rs61311571 0.01359
NM_001040142.2(SCN2A):c.4308+282T>C rs76286600 0.01160
NM_001040142.2(SCN2A):c.4552-50C>T rs150453735 0.01105
NM_001040142.2(SCN2A):c.-51-61A>G rs13407286 0.01049
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_001040142.2(SCN2A):c.-51-136C>T rs79293169 0.01011
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_001040142.2(SCN2A):c.2016+120G>A rs116522869 0.00875
NM_001040142.2(SCN2A):c.1671+64T>C rs144133675 0.00827
NM_001040142.2(SCN2A):c.1672-176T>A rs115509308 0.00823
NM_001040142.2(SCN2A):c.4254+233A>G rs116042841 0.00815
NM_001040142.2(SCN2A):c.2149+136C>T rs140497866 0.00811
NM_001040142.2(SCN2A):c.2388+126G>A rs142860891 0.00803
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_001040142.2(SCN2A):c.1671+45A>T rs189735691 0.00777
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001040142.2(SCN2A):c.267+292C>T rs191176517 0.00609
NM_001040142.2(SCN2A):c.1035-113C>T rs150525722 0.00593
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001040142.2(SCN2A):c.4309-42C>T rs75109281 0.00517
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001040142.2(SCN2A):c.3850-92C>T rs142658371 0.00480
NM_001040142.2(SCN2A):c.3520+327A>C rs138897712 0.00478
NM_001040142.2(SCN2A):c.3973-268G>A rs147704287 0.00478
NM_001040142.2(SCN2A):c.2150-236A>G rs116249800 0.00477
NM_001040142.2(SCN2A):c.971-32A>G rs2304016 0.00471
NM_001040142.2(SCN2A):c.3850-40T>C rs150568699 0.00379
NM_001040142.2(SCN2A):c.3675+19A>G rs142439830 0.00367
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.4552-216A>T rs114176465 0.00354
NM_001040142.2(SCN2A):c.4254+151C>A rs77580177 0.00349
NM_001040142.2(SCN2A):c.4551+173G>A rs150063549 0.00344
NM_001040142.2(SCN2A):c.3521-58C>G rs77343161 0.00336
NM_001040142.2(SCN2A):c.2149+22A>T rs191595857 0.00324
NM_001040142.2(SCN2A):c.3973-243A>T rs73969389 0.00284
NM_001040142.2(SCN2A):c.2017-38A>G rs79920892 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001040142.2(SCN2A):c.2389-48G>A rs114270465 0.00198
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00076
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001040142.2(SCN2A):c.386+17C>T rs201918346 0.00066
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001040142.2(SCN2A):c.2389-18A>C rs376273827 0.00063
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969 0.00054
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001040142.2(SCN2A):c.2149+8A>G rs199897920 0.00033
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.4823-24T>G rs542908287 0.00031
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991 0.00031
NM_001040142.2(SCN2A):c.2149+51A>G rs370086705 0.00030
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001040142.2(SCN2A):c.1383+50T>C rs574535588 0.00019
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102 0.00019
NM_001040142.2(SCN2A):c.1035-7A>C rs558800241 0.00017
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956 0.00016
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001040142.2(SCN2A):c.2149+19G>A rs188453890 0.00015
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_001040142.2(SCN2A):c.3520+11C>T rs187452739 0.00013
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841 0.00013
NM_001040142.2(SCN2A):c.*9C>A rs541483828 0.00012
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308 0.00012
NM_001040142.2(SCN2A):c.2919+8G>A rs552318566 0.00012
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
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.5931T>C (p.Ser1977=) rs187728892 0.00011
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441 0.00010
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541 0.00010
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369 0.00010
NM_001040142.2(SCN2A):c.1306T>C (p.Leu436=) rs376323449 0.00009
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001040142.2(SCN2A):c.4110C>T (p.Thr1370=) rs148868382 0.00009
NM_001040142.2(SCN2A):c.5208T>G (p.Asp1736Glu) rs200016923 0.00009
NM_001040142.2(SCN2A):c.1384-4C>G rs113191507 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001040142.2(SCN2A):c.5568C>T (p.Asp1856=) rs144058186 0.00008
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553 0.00008
NM_001040142.2(SCN2A):c.-51-1658G>T rs796053109 0.00007
NM_001040142.2(SCN2A):c.3521-12C>T rs370419172 0.00007
NM_001040142.2(SCN2A):c.5836_5838del (p.Lys1946del) rs770838929 0.00007
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=) rs758652224 0.00006
NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=) rs138143967 0.00006
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.4221C>T (p.Asn1407=) rs747792907 0.00006
NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=) rs780514937 0.00006
NM_001040142.2(SCN2A):c.1177-16C>G rs553983883 0.00005
NM_001040142.2(SCN2A):c.5043T>C (p.Asn1681=) rs770118417 0.00005
NM_001040142.2(SCN2A):c.5217A>C (p.Gly1739=) rs2227899 0.00005
NM_001040142.2(SCN2A):c.*46C>T rs756838127 0.00004
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536 0.00004
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00004
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546 0.00004
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973 0.00004
NM_001040142.2(SCN2A):c.1605A>G (p.Lys535=) rs367647572 0.00004
NM_001040142.2(SCN2A):c.1621T>C (p.Leu541=) rs763631456 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.1953T>C (p.Asn651=) rs199722574 0.00004
NM_001040142.2(SCN2A):c.2016+3G>A rs752881264 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001040142.2(SCN2A):c.3399+26T>A rs200281442 0.00004
NM_001040142.2(SCN2A):c.3411A>G (p.Ala1137=) rs112270017 0.00004
NM_001040142.2(SCN2A):c.3676-20T>C rs1057522535 0.00004
NM_001040142.2(SCN2A):c.4552-14A>G rs775130301 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.1836C>T (p.Phe612=) rs747402663 0.00003
NM_001040142.2(SCN2A):c.2017-9T>C rs1451143110 0.00003
NM_001040142.2(SCN2A):c.2023A>G (p.Thr675Ala) rs371601218 0.00003
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=) rs764479273 0.00003
NM_001040142.2(SCN2A):c.2388+6C>A rs747774131 0.00003
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001040142.2(SCN2A):c.3399+14A>C rs376371059 0.00003
NM_001040142.2(SCN2A):c.3676-9G>T rs767017457 0.00003
NM_001040142.2(SCN2A):c.5127A>G (p.Gln1709=) rs938025387 0.00003
NM_001040142.2(SCN2A):c.5166T>C (p.Pro1722=) rs760587370 0.00003
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573 0.00002
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001040142.2(SCN2A):c.2219A>G (p.Asp740Gly) rs747869260 0.00002
NM_001040142.2(SCN2A):c.2386C>T (p.Leu796=) rs943031760 0.00002
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769 0.00002
NM_001040142.2(SCN2A):c.270G>A (p.Thr90=) rs776081713 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.3624T>C (p.Asn1208=) rs552725434 0.00002
NM_001040142.2(SCN2A):c.3675+9T>C rs372657571 0.00002
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met) rs779140322 0.00002
NM_001040142.2(SCN2A):c.414G>A (p.Thr138=) rs553026899 0.00002
NM_001040142.2(SCN2A):c.451C>T (p.Pro151Ser) rs200109956 0.00002
NM_001040142.2(SCN2A):c.5119C>T (p.Leu1707=) rs2227897 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.5994A>G (p.Lys1998=) rs745810335 0.00002
NM_001040142.2(SCN2A):c.698-20C>T rs748075978 0.00002
NM_001040142.2(SCN2A):c.901G>A (p.Asp301Asn) rs1432098565 0.00002
NM_001371246.1(SCN2A):c.687T>C (p.Ser229=) rs746904068 0.00002
NM_001040142.2(SCN2A):c.-51-1657G>T rs962697383 0.00001
NM_001040142.2(SCN2A):c.1034+14C>T rs771610189 0.00001
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987 0.00001
NM_001040142.2(SCN2A):c.1038G>A (p.Gln346=) rs1057522529 0.00001
NM_001040142.2(SCN2A):c.1137T>C (p.Arg379=) rs587781154 0.00001
NM_001040142.2(SCN2A):c.1177-15T>G rs1398497493 0.00001
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His) rs754993031 0.00001
NM_001040142.2(SCN2A):c.1383+20G>A rs567354567 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.1473T>G (p.Ser491=) rs1427996432 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.1613G>A (p.Arg538His) rs761203730 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.1748G>A (p.Arg583Gln) rs1158928024 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.1866C>T (p.His622=) rs377388875 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.1938C>T (p.Ser646=) rs528391611 0.00001
NM_001040142.2(SCN2A):c.1969G>A (p.Val657Ile) rs770573856 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771 0.00001
NM_001040142.2(SCN2A):c.2017-6T>C rs761771724 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.2388+12T>C rs749226972 0.00001
NM_001040142.2(SCN2A):c.23C>T (p.Pro8Leu) rs747139785 0.00001
NM_001040142.2(SCN2A):c.2499T>C (p.Leu833=) rs1699364670 0.00001
NM_001040142.2(SCN2A):c.2518T>C (p.Leu840=) rs768817318 0.00001
NM_001040142.2(SCN2A):c.2541A>T (p.Ser847=) rs776618474 0.00001
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser) rs796053120 0.00001
NM_001040142.2(SCN2A):c.2747A>G (p.Asn916Ser) rs763684457 0.00001
NM_001040142.2(SCN2A):c.2811C>T (p.Arg937=) rs779791354 0.00001
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593 0.00001
NM_001040142.2(SCN2A):c.2919+16A>G rs1343240110 0.00001
NM_001040142.2(SCN2A):c.2919+4T>C rs182428124 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.3133C>T (p.Leu1045=) rs369128399 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.3255T>C (p.Tyr1085=) rs1057521230 0.00001
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala) rs1160491617 0.00001
NM_001040142.2(SCN2A):c.3400-24T>G rs201282702 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.3435G>A (p.Thr1145=) rs1345931602 0.00001
NM_001040142.2(SCN2A):c.3443T>C (p.Ile1148Thr) rs1276761608 0.00001
NM_001040142.2(SCN2A):c.3454G>A (p.Ala1152Thr) rs766523968 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.4121T>A (p.Met1374Lys) rs555250264 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.4656C>T (p.Thr1552=) rs765041838 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.4977G>A (p.Ala1659=) rs1250394077 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 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.5697G>A (p.Thr1899=) rs746574956 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.5951A>T (p.Glu1984Val) rs1260472813 0.00001
NM_001040142.2(SCN2A):c.605+13A>G rs1553567417 0.00001
NM_001040142.2(SCN2A):c.628C>G (p.Leu210Val) rs764647930 0.00001
NM_001040142.2(SCN2A):c.672A>G (p.Ala224=) rs2228986 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.982T>G (p.Phe328Val) rs781204054 0.00001
GRCh37/hg19 2q24.3(chr2:166094617-166246621)x3
NM_001040142.2(SCN2A):c.-41T>C rs777439927
NM_001040142.2(SCN2A):c.-51-1637G>T
NM_001040142.2(SCN2A):c.-51-16dup rs1325277297
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His) rs796053175
NM_001040142.2(SCN2A):c.1027G>T (p.Asp343Tyr) rs796053175
NM_001040142.2(SCN2A):c.1028A>T (p.Asp343Val) rs1057524164
NM_001040142.2(SCN2A):c.1030G>A (p.Ala344Thr) rs2105251522
NM_001040142.2(SCN2A):c.1035-55C>A rs77301739
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.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.1147C>G (p.Gln383Glu) rs796053178
NM_001040142.2(SCN2A):c.1176+43C>T rs377365519
NM_001040142.2(SCN2A):c.1177A>G (p.Thr393Ala)
NM_001040142.2(SCN2A):c.1186G>T (p.Ala396Ser) rs768191357
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.1200G>T (p.Thr400=) rs532681917
NM_001040142.2(SCN2A):c.1209A>G (p.Ile403Met)
NM_001040142.2(SCN2A):c.1219C>T (p.Leu407=) rs587781155
NM_001040142.2(SCN2A):c.122G>T (p.Arg41Leu) rs754993031
NM_001040142.2(SCN2A):c.1263G>A (p.Leu421=)
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1272G>A (p.Val424=)
NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys) rs796053182
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly) rs796053183
NM_001040142.2(SCN2A):c.1300G>C (p.Ala434Pro) rs1553568999
NM_001040142.2(SCN2A):c.1303A>G (p.Thr435Ala)
NM_001040142.2(SCN2A):c.1304C>T (p.Thr435Ile) rs1064795159
NM_001040142.2(SCN2A):c.1312G>A (p.Glu438Lys) rs796053184
NM_001040142.2(SCN2A):c.134A>T (p.Asp45Val) rs748331725
NM_001040142.2(SCN2A):c.1351G>A (p.Glu451Lys) rs1057518350
NM_001040142.2(SCN2A):c.1364_1365delinsT (p.Lys455fs) rs1064796123
NM_001040142.2(SCN2A):c.1370AAG[2] (p.Glu459del)
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.1389A>G (p.Ala463=) rs9333575
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.1437G>A (p.Gly479=) rs940572077
NM_001040142.2(SCN2A):c.1439T>C (p.Ile480Thr)
NM_001040142.2(SCN2A):c.1448T>C (p.Phe483Ser) rs2105259678
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.1599A>G (p.Arg533=) rs1553569785
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.1649del (p.Lys550fs) rs886039710
NM_001040142.2(SCN2A):c.1670A>C (p.Gln557Pro)
NM_001040142.2(SCN2A):c.1672-7T>C rs1553571855
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.1729del (p.Leu577fs) rs2105276746
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter) rs1553571901
NM_001040142.2(SCN2A):c.1770G>C (p.Glu590Asp) rs1698165169
NM_001040142.2(SCN2A):c.1779T>G (p.Phe593Leu)
NM_001040142.2(SCN2A):c.177A>C (p.Gly59=) rs796053110
NM_001040142.2(SCN2A):c.1793A>G (p.His598Arg)
NM_001040142.2(SCN2A):c.1814A>C (p.Asp605Ala) rs2105276908
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=) rs1057522258
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.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.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.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.2079T>C (p.Asp693=) rs1553573107
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2149+182_2149+183del rs66861006
NM_001040142.2(SCN2A):c.2149+183del rs66861006
NM_001040142.2(SCN2A):c.2149+5G>A rs773024189
NM_001040142.2(SCN2A):c.2150-10T>G rs1057523367
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.2167C>A (p.Gln723Lys) rs1553574506
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.2341T>C (p.Tyr781His)
NM_001040142.2(SCN2A):c.2352G>A (p.Thr784=) rs369101059
NM_001040142.2(SCN2A):c.2354del (p.Glu785fs) rs1553574729
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.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2562+1G>T rs796053113
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2581del (p.Ala861fs) rs1574641366
NM_001040142.2(SCN2A):c.2597C>T (p.Thr866Ile)
NM_001040142.2(SCN2A):c.2604T>G (p.Asn868Lys) rs796053114
NM_001040142.2(SCN2A):c.260A>G (p.Asn87Ser) rs2106149436
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs) rs1064793850
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
NM_001040142.2(SCN2A):c.2637G>C (p.Gly879=) rs1490972796
NM_001040142.2(SCN2A):c.2642T>A (p.Leu881Gln) rs796053116
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.268-150dup rs139906774
NM_001040142.2(SCN2A):c.268-19G>A rs898178511
NM_001040142.2(SCN2A):c.268-321dup rs67944134
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.2701C>G (p.Gln901Glu) rs1131691466
NM_001040142.2(SCN2A):c.2715G>C (p.Lys905Asn) rs796053119
NM_001040142.2(SCN2A):c.2722A>G (p.Lys908Glu) rs796053122
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.2757A>G (p.Glu919=) rs1057520595
NM_001040142.2(SCN2A):c.2760C>T (p.Leu920=) rs1057523075
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg) rs1057524573
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.2792C>A (p.Ser931Tyr) rs1085307541
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2812G>A (p.Val938Met)
NM_001040142.2(SCN2A):c.2823dup (p.Glu942fs) rs1553579500
NM_001040142.2(SCN2A):c.2842T>C (p.Trp948Arg) rs2105319097
NM_001040142.2(SCN2A):c.2844G>A (p.Trp948Ter)
NM_001040142.2(SCN2A):c.2875T>C (p.Cys959Arg) rs1057523696
NM_001040142.2(SCN2A):c.289G>T (p.Gly97Trp) rs2106151134
NM_001040142.2(SCN2A):c.2920-265del rs201300416
NM_001040142.2(SCN2A):c.2920-279_2920-272del rs201277197
NM_001040142.2(SCN2A):c.2928C>T (p.Asn976=) rs2105336790
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001040142.2(SCN2A):c.2942dup (p.Leu981fs) rs1553583550
NM_001040142.2(SCN2A):c.2948T>G (p.Leu983Trp) rs1553583560
NM_001040142.2(SCN2A):c.2960G>A (p.Ser987Asn) rs796053124
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
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.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3017C>T (p.Ala1006Val) rs1700072264
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.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.305G>A (p.Arg102Gln) rs1064795576
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.3154T>C (p.Cys1052Arg) rs2105337207
NM_001040142.2(SCN2A):c.3164A>G (p.Asn1055Ser)
NM_001040142.2(SCN2A):c.31C>G (p.Pro11Ala) rs2106148959
NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter) rs1553584053
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.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.3391del (p.Ser1131fs) rs1064796203
NM_001040142.2(SCN2A):c.3393C>A (p.Ser1131Arg) rs2105337618
NM_001040142.2(SCN2A):c.3400-74del rs3835933
NM_001040142.2(SCN2A):c.3400-74dup rs3835933
NM_001040142.2(SCN2A):c.3400-75_3400-74del rs3835933
NM_001040142.2(SCN2A):c.3401del (p.Lys1134fs) rs796053192
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.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.3520+111TATC[5] rs3835934
NM_001040142.2(SCN2A):c.3520+111TATC[7] rs3835934
NM_001040142.2(SCN2A):c.3520+184_3520+185dup rs3835935
NM_001040142.2(SCN2A):c.3520+185dup rs3835935
NM_001040142.2(SCN2A):c.3520+1G>T
NM_001040142.2(SCN2A):c.3521-3T>G
NM_001040142.2(SCN2A):c.3526G>A (p.Val1176Ile)
NM_001040142.2(SCN2A):c.3550A>G (p.Ile1184Val) rs1553590122
NM_001040142.2(SCN2A):c.3558A>G (p.Ile1186Met) rs2105359590
NM_001040142.2(SCN2A):c.3559G>A (p.Glu1187Lys)
NM_001040142.2(SCN2A):c.356G>T (p.Arg119Ile) rs2106151229
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs) rs1553590192
NM_001040142.2(SCN2A):c.3601T>G (p.Cys1201Gly)
NM_001040142.2(SCN2A):c.3623A>C (p.Asn1208Thr)
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
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.3682G>A (p.Glu1228Lys) rs1553591718
NM_001040142.2(SCN2A):c.3702G>A (p.Gln1234=) rs1198199936
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500
NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe) rs1553591763
NM_001040142.2(SCN2A):c.3754A>C (p.Ile1252Leu)
NM_001040142.2(SCN2A):c.37A>G (p.Ser13Gly) rs2106148981
NM_001040142.2(SCN2A):c.3850-231G>A rs144431811
NM_001040142.2(SCN2A):c.3852C>T (p.Val1284=) rs1057521569
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.386+6del rs2106151278
NM_001040142.2(SCN2A):c.3869C>T (p.Thr1290Ile) rs1701137468
NM_001040142.2(SCN2A):c.387-135del rs3214603
NM_001040142.2(SCN2A):c.387-2A>G rs796053169
NM_001040142.2(SCN2A):c.387-34C>T rs536903726
NM_001040142.2(SCN2A):c.3884G>A (p.Gly1295Asp) rs2105370652
NM_001040142.2(SCN2A):c.3892G>T (p.Glu1298Ter) rs1553593030
NM_001040142.2(SCN2A):c.3921A>G (p.Thr1307=) rs775124046
NM_001040142.2(SCN2A):c.3939A>G (p.Pro1313=) rs1553593075
NM_001040142.2(SCN2A):c.3944G>A (p.Arg1315Lys) rs796053129
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.3964G>A (p.Gly1322Arg) rs1057521223
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=) rs1057518117
NM_001040142.2(SCN2A):c.3972G>C (p.Arg1324Ser) rs1057518117
NM_001040142.2(SCN2A):c.3972G>T (p.Arg1324Ser) rs1057518117
NM_001040142.2(SCN2A):c.3977T>A (p.Val1326Asp) rs796053131
NM_001040142.2(SCN2A):c.3985G>T (p.Ala1329Ser) rs1057524059
NM_001040142.2(SCN2A):c.3986C>A (p.Ala1329Asp) rs1553593578
NM_001040142.2(SCN2A):c.3995G>C (p.Gly1332Ala) rs1553593589
NM_001040142.2(SCN2A):c.3997G>A (p.Ala1333Thr) rs796053132
NM_001040142.2(SCN2A):c.4001T>C (p.Ile1334Thr) rs886039461
NM_001040142.2(SCN2A):c.4013T>C (p.Met1338Thr) rs796053133
NM_001040142.2(SCN2A):c.4013T>G (p.Met1338Arg) rs796053133
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val) rs796053135
NM_001040142.2(SCN2A):c.4045C>T (p.Leu1349=) rs946393942
NM_001040142.2(SCN2A):c.4059C>G (p.Ile1353Met) rs796053136
NM_001040142.2(SCN2A):c.4061T>C (p.Met1354Thr) rs1553593676
NM_001040142.2(SCN2A):c.4095T>G (p.His1365Gln)
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val) rs1308555812
NM_001040142.2(SCN2A):c.4157G>A (p.Cys1386Tyr) rs1057523734
NM_001040142.2(SCN2A):c.425A>G (p.Asn142Ser)
NM_001040142.2(SCN2A):c.425del (p.Asn142fs) rs796053196
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4267G>T (p.Gly1423Ter) rs1553461660
NM_001040142.2(SCN2A):c.4303C>G (p.Arg1435Gly) rs796053138
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4308+1G>A rs886039648
NM_001040142.2(SCN2A):c.4309-10T>C rs1057522929
NM_001040142.2(SCN2A):c.4321C>T (p.Pro1441Ser) rs796053141
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4349A>G (p.Tyr1450Cys) rs1131691951
NM_001040142.2(SCN2A):c.4369A>G (p.Ile1457Val) rs796053142
NM_001040142.2(SCN2A):c.4369ATT[1] (p.Ile1458del) rs796053193
NM_001040142.2(SCN2A):c.4371dup (p.Ile1458fs) rs1131691361
NM_001040142.2(SCN2A):c.4376T>G (p.Phe1459Cys) rs2105384651
NM_001040142.2(SCN2A):c.437T>C (p.Met146Thr)
NM_001040142.2(SCN2A):c.4394T>G (p.Leu1465Trp) rs796053143
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr) rs1085307898
NM_001040142.2(SCN2A):c.4425C>G (p.Asn1475Lys)
NM_001040142.2(SCN2A):c.4437G>T (p.Gln1479His) rs2105384764
NM_001040142.2(SCN2A):c.4446+9A>G rs796053140
NM_001040142.2(SCN2A):c.4447-6C>T rs1173151782
NM_001040142.2(SCN2A):c.4461C>G (p.Asp1487Glu) rs1553462203
NM_001040142.2(SCN2A):c.4461C>T (p.Asp1487=) rs1553462203
NM_001040142.2(SCN2A):c.4463T>A (p.Ile1488Asn) rs796053144
NM_001040142.2(SCN2A):c.4474GAA[1] (p.Glu1493del) rs796053194
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer) rs1553462224
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4517C>A (p.Ser1506Ter) rs1287017958
NM_001040142.2(SCN2A):c.451C>G (p.Pro151Ala) rs200109956
NM_001040142.2(SCN2A):c.4535C>A (p.Pro1512His) rs2105385911
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4552-133dup rs78399411
NM_001040142.2(SCN2A):c.4552-268dup rs201637062
NM_001040142.2(SCN2A):c.4576G>C (p.Asp1526His)
NM_001040142.2(SCN2A):c.4581T>G (p.Phe1527Leu)
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) rs1553463032
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.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) rs796053195
NM_001040142.2(SCN2A):c.4612A>G (p.Met1538Val) rs796053147
NM_001040142.2(SCN2A):c.4625G>C (p.Cys1542Ser)
NM_001040142.2(SCN2A):c.4630A>G (p.Asn1544Asp) rs796053149
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val) rs796053150
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.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.4691_4692del (p.Tyr1564fs) rs1553463074
NM_001040142.2(SCN2A):c.4693T>A (p.Trp1565Arg) rs1701902994
NM_001040142.2(SCN2A):c.4701T>A (p.Asn1567Lys) rs796053151
NM_001040142.2(SCN2A):c.4718T>C (p.Leu1573Pro) rs796053152
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4730A>G (p.Glu1577Gly)
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.476+1G>A rs2105241466
NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg) rs886041259
NM_001040142.2(SCN2A):c.4780T>C (p.Trp1594Arg) rs1057518111
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.4804G>A (p.Val1602Ile) rs1331552676
NM_001040142.2(SCN2A):c.4822G>A (p.Gly1608Arg) rs796053154
NM_001040142.2(SCN2A):c.4823-15G>T rs375524288
NM_001040142.2(SCN2A):c.482delinsAATT (p.Thr161delinsLysPhe)
NM_001040142.2(SCN2A):c.4854T>C (p.Tyr1618=) rs770349641
NM_001040142.2(SCN2A):c.4856T>C (p.Phe1619Ser) rs1085307542
NM_001040142.2(SCN2A):c.4861T>C (p.Ser1621Pro) rs1057517853
NM_001040142.2(SCN2A):c.4865C>T (p.Pro1622Leu) rs1558885489
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) rs1060503102
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4895G>A (p.Arg1632Lys) rs796053158
NM_001040142.2(SCN2A):c.489A>G (p.Thr163=) rs1057520898
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter) rs1064794730
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met) rs796053160
NM_001040142.2(SCN2A):c.4912C>T (p.Arg1638Cys) rs1702006147
NM_001040142.2(SCN2A):c.4915C>T (p.Leu1639=) rs796053108
NM_001040142.2(SCN2A):c.4925G>C (p.Gly1642Ala)
NM_001040142.2(SCN2A):c.4932G>C (p.Lys1644Asn)
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.4964T>C (p.Met1655Thr) rs1064794721
NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr) rs2105402379
NM_001040142.2(SCN2A):c.5003del (p.Phe1668fs) rs1064796620
NM_001040142.2(SCN2A):c.5019C>A (p.Ile1673=) rs2105402438
NM_001040142.2(SCN2A):c.5039C>T (p.Ser1680Phe) rs2105402462
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.5101G>A (p.Gly1701Ser)
NM_001040142.2(SCN2A):c.5114T>C (p.Ile1705Thr) rs2105402552
NM_001040142.2(SCN2A):c.5167A>G (p.Ile1723Val)
NM_001040142.2(SCN2A):c.5175T>G (p.Asn1725Lys) rs1428775007
NM_001040142.2(SCN2A):c.517A>T (p.Lys173Ter) rs1553567304
NM_001040142.2(SCN2A):c.5180G>C (p.Gly1727Ala)
NM_001040142.2(SCN2A):c.5189A>T (p.Asp1730Val)
NM_001040142.2(SCN2A):c.519A>G (p.Lys173=) rs200941759
NM_001040142.2(SCN2A):c.5204A>G (p.Lys1735Arg) rs2105402727
NM_001040142.2(SCN2A):c.5211C>A (p.His1737Gln)
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
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.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5339G>A (p.Ser1780Asn) rs796053163
NM_001040142.2(SCN2A):c.5388G>A (p.Glu1796=) rs587781153
NM_001040142.2(SCN2A):c.539G>A (p.Cys180Tyr) rs1064796281
NM_001040142.2(SCN2A):c.5405G>A (p.Trp1802Ter) rs1553463634
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.543A>C (p.Leu181Phe) 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.547G>T (p.Asp183Tyr)
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.554C>T (p.Thr185Ile) rs1553567347
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.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.563G>A (p.Arg188Gln)
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.5645G>T (p.Arg1882Leu) rs794727444
NM_001040142.2(SCN2A):c.5680G>A (p.Glu1894Lys)
NM_001040142.2(SCN2A):c.5680G>C (p.Glu1894Gln) rs1393820493
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.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.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.604G>T (p.Ala202Ser)
NM_001040142.2(SCN2A):c.605+15_605+16delinsTATT rs1553567419
NM_001040142.2(SCN2A):c.605+1G>T rs796053171
NM_001040142.2(SCN2A):c.605+4_605+7del rs1697274160
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.607T>G (p.Tyr203Asp) rs1553567515
NM_001040142.2(SCN2A):c.620T>G (p.Phe207Cys) rs1064796691
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro) rs1057517854
NM_001040142.2(SCN2A):c.643G>C (p.Ala215Pro) rs1131691927
NM_001040142.2(SCN2A):c.645G>A (p.Ala215=) rs370724112
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_001040142.2(SCN2A):c.681A>C (p.Thr227=) rs2228987
NM_001040142.2(SCN2A):c.697G>C (p.Gly233Arg) rs2105245106
NM_001040142.2(SCN2A):c.708del (p.Ile237fs) rs796053198
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr) rs1064795014
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser) rs1064795014
NM_001040142.2(SCN2A):c.718_719delinsTT (p.Ala240Phe) rs796053206
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) rs1553567864
NM_001040142.2(SCN2A):c.721del (p.Ala240_Leu241insTer) rs2105247197
NM_001040142.2(SCN2A):c.74T>G (p.Ile25Ser) rs1366486532
NM_001040142.2(SCN2A):c.775C>A (p.Leu259Ile) rs1064795018
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
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>T (p.Gln27His) rs1162322343
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
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_001040142.2(SCN2A):c.921C>G (p.Phe307Leu) rs1553568092
NM_021007.3(SCN2A):c.5249C>A (p.Ser1750Tyr) rs2105402840

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