ClinVar Miner

List of variants in gene SCN2A studied for Inborn genetic diseases

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Gene type:
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Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
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.100G>A (p.Ala34Thr) rs144814658 0.00063
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.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991 0.00031
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.952G>A (p.Glu318Lys) rs149987700 0.00024
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.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.2050C>T (p.Arg684Trp) rs200783308 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.3579C>A (p.Leu1193=) rs367546924 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.1959G>A (p.Val653=) rs200546427 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 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.1386G>A (p.Ala462=) rs145912536 0.00004
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.5705G>A (p.Arg1902His) rs747710683 0.00004
NM_001040142.2(SCN2A):c.1095G>A (p.Thr365=) rs2227900 0.00003
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg) rs796053201 0.00003
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=) rs747402663 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=) rs760647603 0.00003
NM_001040142.2(SCN2A):c.837G>A (p.Leu279=) rs776892826 0.00003
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769 0.00002
NM_001040142.2(SCN2A):c.3102A>C (p.Lys1034Asn) rs772956132 0.00002
NM_001040142.2(SCN2A):c.3195C>A (p.Leu1065=) rs150369313 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.4135G>A (p.Val1379Met) rs779140322 0.00002
NM_001040142.2(SCN2A):c.4671A>G (p.Gln1557=) rs757986594 0.00002
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001040142.2(SCN2A):c.923A>G (p.Asn308Ser) rs753821498 0.00002
NM_001040142.2(SCN2A):c.145G>A (p.Gly49Ser) rs773605666 0.00001
NM_001040142.2(SCN2A):c.1577C>T (p.Ser526Leu) rs749504084 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.1904T>C (p.Leu635Pro) rs558887330 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln) rs146949852 0.00001
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser) rs796053120 0.00001
NM_001040142.2(SCN2A):c.2919+4T>C rs182428124 0.00001
NM_001040142.2(SCN2A):c.3083C>G (p.Ala1028Gly) rs553589945 0.00001
NM_001040142.2(SCN2A):c.3130G>T (p.Asp1044Tyr) rs1197983141 0.00001
NM_001040142.2(SCN2A):c.3133C>T (p.Leu1045=) rs369128399 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 0.00001
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala) rs1160491617 0.00001
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.3556A>G (p.Ile1186Val) rs1433862850 0.00001
NM_001040142.2(SCN2A):c.3561A>G (p.Glu1187=) rs1388551340 0.00001
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020 0.00001
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=) rs1225687118 0.00001
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val) rs755159786 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 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.5818T>C (p.Cys1940Arg) rs747846577 0.00001
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=) rs776509462 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001040142.2(SCN2A):c.101C>T (p.Ala34Val) rs1553564177
NM_001040142.2(SCN2A):c.1103A>T (p.Asp368Val) rs1559355584
NM_001040142.2(SCN2A):c.1113T>C (p.Ser371=) rs1438036303
NM_001040142.2(SCN2A):c.1146T>C (p.Thr382=)
NM_001040142.2(SCN2A):c.1248A>G (p.Leu416=)
NM_001040142.2(SCN2A):c.1314G>C (p.Glu438Asp) rs1697590312
NM_001040142.2(SCN2A):c.1379C>T (p.Ala460Val)
NM_001040142.2(SCN2A):c.1393G>T (p.Ala465Ser)
NM_001040142.2(SCN2A):c.1519A>G (p.Lys507Glu) rs1553569649
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) rs1697702086
NM_001040142.2(SCN2A):c.1568T>C (p.Val523Ala) rs1559357469
NM_001040142.2(SCN2A):c.1661C>A (p.Ser554Tyr)
NM_001040142.2(SCN2A):c.1728C>G (p.Ser576Arg) rs1382196994
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.1890_1891del (p.Ala631fs) rs1698169832
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val) rs1017711579
NM_001040142.2(SCN2A):c.1988T>A (p.Leu663His)
NM_001040142.2(SCN2A):c.2180C>T (p.Pro727Leu)
NM_001040142.2(SCN2A):c.2187G>C (p.Trp729Cys)
NM_001040142.2(SCN2A):c.2226T>C (p.Cys742=) rs1553574579
NM_001040142.2(SCN2A):c.2334G>A (p.Met778Ile)
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter) rs1553574733
NM_001040142.2(SCN2A):c.2388+1dup
NM_001040142.2(SCN2A):c.2420T>C (p.Phe807Ser)
NM_001040142.2(SCN2A):c.2422C>A (p.Leu808Ile)
NM_001040142.2(SCN2A):c.2450A>G (p.Tyr817Cys)
NM_001040142.2(SCN2A):c.2504T>G (p.Leu835Ter) rs1699364897
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala) rs1559376694
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.2816T>C (p.Leu939Pro)
NM_001040142.2(SCN2A):c.2819G>A (p.Cys940Tyr)
NM_001040142.2(SCN2A):c.2874G>C (p.Met958Ile) rs1559377161
NM_001040142.2(SCN2A):c.2890A>T (p.Met964Leu)
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp) rs1553583544
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.3067_3068del (p.Glu1023fs) rs1553583712
NM_001040142.2(SCN2A):c.3190_3230dup (p.Ile1078fs)
NM_001040142.2(SCN2A):c.3383T>C (p.Met1128Thr) rs373780066
NM_001040142.2(SCN2A):c.3489A>C (p.Glu1163Asp)
NM_001040142.2(SCN2A):c.3521-3T>C
NM_001040142.2(SCN2A):c.3521A>G (p.Asp1174Gly)
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.367A>G (p.Ile123Val) rs1396703741
NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe) rs1553591763
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_001040142.2(SCN2A):c.3840G>C (p.Leu1280=)
NM_001040142.2(SCN2A):c.3844G>T (p.Val1282Phe) rs1184922927
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.3861T>G (p.Val1287=) rs1701137260
NM_001040142.2(SCN2A):c.3932T>G (p.Leu1311Arg) rs1559397843
NM_001040142.2(SCN2A):c.3977T>C (p.Val1326Ala)
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile) rs1697221269
NM_001040142.2(SCN2A):c.4196A>G (p.Lys1399Arg) rs1559399453
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4407del (p.Ile1469fs)
NM_001040142.2(SCN2A):c.4461C>T (p.Asp1487=) rs1553462203
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4540C>A (p.Pro1514Thr)
NM_001040142.2(SCN2A):c.4648del (p.Val1550fs)
NM_001040142.2(SCN2A):c.4752del (p.Leu1585fs)
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) rs1060503102
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4912C>T (p.Arg1638Cys) rs1702006147
NM_001040142.2(SCN2A):c.4940G>A (p.Arg1647His) rs797044927
NM_001040142.2(SCN2A):c.4967C>T (p.Ser1656Phe) rs1553463464
NM_001040142.2(SCN2A):c.4975G>C (p.Ala1659Pro)
NM_001040142.2(SCN2A):c.4980_4983del (p.Phe1661fs) rs1558885691
NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe) rs1553463466
NM_001040142.2(SCN2A):c.5136C>T (p.Thr1712=)
NM_001040142.2(SCN2A):c.5195A>C (p.Asp1732Ala)
NM_001040142.2(SCN2A):c.5251G>T (p.Val1751Phe)
NM_001040142.2(SCN2A):c.5265_5268del (p.Phe1755fs) rs1466129143
NM_001040142.2(SCN2A):c.5274T>A (p.Ser1758Arg) rs1553463586
NM_001040142.2(SCN2A):c.5308A>T (p.Met1770Leu) rs1553463594
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.5422G>C (p.Asp1808His)
NM_001040142.2(SCN2A):c.543A>C (p.Leu181Phe) rs796053170
NM_001040142.2(SCN2A):c.5506A>G (p.Lys1836Glu) rs779432244
NM_001040142.2(SCN2A):c.555A>G (p.Thr185=) rs1485827292
NM_001040142.2(SCN2A):c.5613G>A (p.Glu1871=) rs1558886661
NM_001040142.2(SCN2A):c.5618A>G (p.Asp1873Gly)
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) rs796053166
NM_001040142.2(SCN2A):c.5696C>T (p.Thr1899Met)
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter) rs1553463850
NM_001040142.2(SCN2A):c.5798A>G (p.Lys1933Arg)
NM_001040142.2(SCN2A):c.5805C>T (p.Asp1935=)
NM_001040142.2(SCN2A):c.5815G>C (p.Glu1939Gln)
NM_001040142.2(SCN2A):c.584A>G (p.Asp195Gly) rs1697272149
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln) rs1559352517
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
NM_001040142.2(SCN2A):c.795A>C (p.Ile265=)
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001040142.2(SCN2A):c.850G>A (p.Asp284Asn)
NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.937A>G (p.Ile313Val)
NM_001040142.2(SCN2A):c.9G>C (p.Gln3His)
NM_001371246.1(SCN2A):c.668G>T (p.Arg223Ile) rs1553567488

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