ClinVar Miner

List of variants in gene SCN2A reported as pathogenic for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NC_000002.11:g.(?_166198786)_(166201441_?)del
NC_000002.11:g.(?_166229715)_(166237727_?)del
NC_000002.11:g.(?_166237082)_(166237727_?)dup
NC_000002.11:g.(?_166237082)_(166246334_?)del
NC_000002.11:g.(?_166237246)_(166237713_?)del
NC_000002.11:g.(?_166237583)_(166246334_?)del
NC_000002.11:g.(?_166237651)_(166240529_?)del
NC_000002.12:g.(?_165365123)_(165389844_?)del
NM_001040142.2(SCN2A):c.1019dup (p.Asn340fs) rs1697464755
NM_001040142.2(SCN2A):c.1030del (p.Ala344fs)
NM_001040142.2(SCN2A):c.1078C>T (p.Pro360Ser) rs1574566768
NM_001040142.2(SCN2A):c.1086T>A (p.Tyr362Ter)
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) rs796053178
NM_001040142.2(SCN2A):c.1147C>T (p.Gln383Ter) rs796053178
NM_001040142.2(SCN2A):c.1184G>A (p.Arg395His)
NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs) rs1553568927
NM_001040142.2(SCN2A):c.122del (p.Arg41fs)
NM_001040142.2(SCN2A):c.1242C>G (p.Phe414Leu) rs2105255869
NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val) rs2105255913
NM_001040142.2(SCN2A):c.1267G>A (p.Val423Met)
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1267G>T (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met) rs1574567728
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly) rs796053181
NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys) rs1553568990
NM_001040142.2(SCN2A):c.1291C>T (p.Gln431Ter)
NM_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser) rs1553569010
NM_001040142.2(SCN2A):c.1312G>A (p.Glu438Lys) rs796053184
NM_001040142.2(SCN2A):c.1312G>C (p.Glu438Gln) rs796053184
NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter) rs1553569054
NM_001040142.2(SCN2A):c.1360A>T (p.Lys454Ter)
NM_001040142.2(SCN2A):c.1363A>T (p.Lys455Ter) rs1553569087
NM_001040142.2(SCN2A):c.1486A>T (p.Lys496Ter)
NM_001040142.2(SCN2A):c.1497del (p.Glu500fs) rs2105259788
NM_001040142.2(SCN2A):c.1508del (p.Asn503fs)
NM_001040142.2(SCN2A):c.1508dup (p.Asn503fs)
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) rs1697702086
NM_001040142.2(SCN2A):c.1533_1536del (p.Lys511fs) rs1553569662
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter) rs1553569754
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)
NM_001040142.2(SCN2A):c.1687del (p.Arg563fs)
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg) rs2105276771
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter) rs1553571901
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.1819_1831del (p.Arg607fs) rs2105276912
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.1976dup (p.Ser661fs)
NM_001040142.2(SCN2A):c.2150-2A>G rs2105293230
NM_001040142.2(SCN2A):c.2164del (p.Arg722fs)
NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg) rs1553574522
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
NM_001040142.2(SCN2A):c.2190T>A (p.Tyr730Ter) rs2105293298
NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)
NM_001040142.2(SCN2A):c.2242del (p.Lys747_Val748insTer)
NM_001040142.2(SCN2A):c.2343T>G (p.Tyr781Ter)
NM_001040142.2(SCN2A):c.2473_2474del (p.Ile825fs)
NM_001040142.2(SCN2A):c.2480A>G (p.Asp827Gly) rs796053112
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2552C>A (p.Ser851Ter)
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2558G>C (p.Arg853Pro) rs794727152
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.2592G>A (p.Trp864Ter)
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
NM_001040142.2(SCN2A):c.2634_2635delinsTC (p.Gly879Arg)
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2711del (p.Gly904fs)
NM_001040142.2(SCN2A):c.2734_2735insTTGTGTCT (p.Cys912fs) rs1699481130
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter) rs1553579543
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn) rs2105319167
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040142.2(SCN2A):c.2928C>A (p.Asn976Lys) rs2105336790
NM_001040142.2(SCN2A):c.2936T>C (p.Leu979Ser)
NM_001040142.2(SCN2A):c.2948T>G (p.Leu983Trp) rs1553583560
NM_001040142.2(SCN2A):c.2970T>A (p.Asn990Lys)
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) rs121917754
NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs) rs1553583659
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3067G>T (p.Glu1023Ter) rs1397215259
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs) rs2105337298
NM_001040142.2(SCN2A):c.3211G>T (p.Gly1071Ter)
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3399+1del rs2105337639
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3551_3558del (p.Ile1184fs)
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs) rs1553590192
NM_001040142.2(SCN2A):c.3582G>A (p.Trp1194Ter)
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3782G>A (p.Trp1261Ter) rs1553591818
NM_001040142.2(SCN2A):c.3802dup (p.Val1268fs) rs2105365318
NM_001040142.2(SCN2A):c.3843T>G (p.Ile1281Met)
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs) rs1701138696
NM_001040142.2(SCN2A):c.3915del (p.Arg1306fs)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.3997G>A (p.Ala1333Thr) rs796053132
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser) rs796053132
NM_001040142.2(SCN2A):c.399_400dup (p.Leu134fs)
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp) rs2105373027
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.4061T>C (p.Met1354Thr) rs1553593676
NM_001040142.2(SCN2A):c.407T>G (p.Met136Arg)
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile) rs1697221269
NM_001040142.2(SCN2A):c.4141_4142insGTGCACGCTT (p.Asn1381fs)
NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly) rs794727364
NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs) rs1553461662
NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter) rs2105384553
NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter) rs1574731232
NM_001040142.2(SCN2A):c.4364T>A (p.Ile1455Asn) rs2105384629
NM_001040142.2(SCN2A):c.4377T>G (p.Phe1459Leu)
NM_001040142.2(SCN2A):c.4385del (p.Phe1462fs)
NM_001040142.2(SCN2A):c.4389dup (p.Thr1464fs) rs1701553164
NM_001040142.2(SCN2A):c.4425C>G (p.Asn1475Lys)
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys) rs1553462132
NM_001040142.2(SCN2A):c.4432C>G (p.Gln1478Glu) rs1553462132
NM_001040142.2(SCN2A):c.4437del (p.Lys1481fs)
NM_001040142.2(SCN2A):c.4446+9A>G rs796053140
NM_001040142.2(SCN2A):c.4451_4454del (p.Gly1484fs)
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr) rs2105385811
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter) rs1287017958
NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile) rs2105385886
NM_001040142.2(SCN2A):c.4533dup (p.Pro1512fs) rs2105385903
NM_001040142.2(SCN2A):c.4543C>T (p.Arg1515Ter) rs1365774406
NM_001040142.2(SCN2A):c.4544G>A (p.Arg1515Gln)
NM_001040142.2(SCN2A):c.4551+1G>A rs527688117
NM_001040142.2(SCN2A):c.4575del (p.Phe1525fs)
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr) rs1553463038
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val) rs796053150
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr) rs2105398463
NM_001040142.2(SCN2A):c.4745T>C (p.Leu1582Pro) rs1701905156
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4769T>C (p.Phe1590Ser) rs544310562
NM_001040142.2(SCN2A):c.4787T>G (p.Ile1596Ser) rs2105398613
NM_001040142.2(SCN2A):c.4822+1G>T
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly) rs2105402019
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs) rs1574751309
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser)
NM_001040142.2(SCN2A):c.4868C>A (p.Thr1623Asn) rs1702001950
NM_001040142.2(SCN2A):c.4871T>C (p.Leu1624Pro)
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.4885C>G (p.Arg1629Gly) rs1702003567
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4886G>C (p.Arg1629Pro)
NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu) rs796053157
NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val) rs1553463427
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.4928C>A (p.Ala1643Glu)
NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile) rs1702008323
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5018T>C (p.Ile1673Thr)
NM_001040142.2(SCN2A):c.507del (p.Glu169fs) rs1574554892
NM_001040142.2(SCN2A):c.5125del (p.Gln1709fs) rs1553463516
NM_001040142.2(SCN2A):c.5132C>G (p.Thr1711Arg)
NM_001040142.2(SCN2A):c.5144G>T (p.Gly1715Val) rs1702015681
NM_001040142.2(SCN2A):c.5144_5153del (p.Gly1715fs) rs2105402593
NM_001040142.2(SCN2A):c.5198del (p.Pro1733fs) rs2105402711
NM_001040142.2(SCN2A):c.5268dup (p.Val1757fs)
NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs) rs1558886168
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5407G>T (p.Glu1803Ter)
NM_001040142.2(SCN2A):c.5431C>G (p.Gln1811Glu) rs1553463649
NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg) rs2105403389
NM_001040142.2(SCN2A):c.5563C>A (p.Leu1855Ile) rs2105403397
NM_001040142.2(SCN2A):c.5640A>C (p.Glu1880Asp) rs2105403544
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys) rs1553567381
NM_001040142.2(SCN2A):c.579G>A (p.Trp193Ter) rs748656792
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+1G>C
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp) rs1697311700
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp) rs2105244906
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro) rs1057517854
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_001040142.2(SCN2A):c.658A>G (p.Arg220Gly) rs1559352550
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser) rs2105247122
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser) rs1064795014
NM_001040142.2(SCN2A):c.718del (p.Ala240fs) rs2105247156
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala) rs2105247262
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val) rs387906687
NM_001040142.2(SCN2A):c.773_776del (p.Phe257_Cys258insTer) rs2105247288
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr) rs1697364931
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.7C>T (p.Gln3Ter) rs1553564141
NM_001040142.2(SCN2A):c.807G>T (p.Leu269Phe) rs2105247416
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001040142.2(SCN2A):c.851A>G (p.Asp284Gly) rs796053173
NM_001040142.2(SCN2A):c.860_863dup (p.Glu289fs)
NM_001040142.2(SCN2A):c.962_970+1del rs1559353540
NM_001040142.2(SCN2A):c.986dup (p.Leu329fs) rs2105251438

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