ClinVar Miner

List of variants in gene SCN2A studied for Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP
NC_000002.11:g.(?_166221633)_(166246354_?)del
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1028A>G (p.Asp343Gly)
NM_001040142.2(SCN2A):c.1046A>C (p.Glu349Ala)
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1078C>T (p.Pro360Ser)
NM_001040142.2(SCN2A):c.1095G>A (p.Thr365=) rs2227900
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) rs796053178
NM_001040142.2(SCN2A):c.1177-8T>C rs1060504831
NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs) rs1553568927
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1253A>G (p.Asn418Ser) rs1553568970
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met)
NM_001040142.2(SCN2A):c.1285G>A (p.Glu429Lys) rs1553568987
NM_001040142.2(SCN2A):c.1330G>A (p.Ala444Thr)
NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter) rs1553569054
NM_001040142.2(SCN2A):c.134A>T (p.Asp45Val)
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.1384-4C>G rs113191507
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val)
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_001040142.2(SCN2A):c.1436G>A (p.Gly479Glu)
NM_001040142.2(SCN2A):c.1484C>G (p.Ser495Cys) rs140661535
NM_001040142.2(SCN2A):c.1529_1532AGAA[1] (p.Lys511fs) rs1553569662
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546
NM_001040142.2(SCN2A):c.1538A>G (p.Gln513Arg)
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His)
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter) rs1553569789
NM_001040142.2(SCN2A):c.1605A>G (p.Lys535=) rs367647572
NM_001040142.2(SCN2A):c.1672-3T>C rs769105267
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu) rs143734912
NM_001040142.2(SCN2A):c.1842G>A (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996
NM_001040142.2(SCN2A):c.1919T>C (p.Met640Thr) rs1559362618
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614
NM_001040142.2(SCN2A):c.1938C>T (p.Ser646=) rs528391611
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val)
NM_001040142.2(SCN2A):c.2016+5G>A
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln)
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile) rs1060503100
NM_001040142.2(SCN2A):c.2149+3A>C rs1474808070
NM_001040142.2(SCN2A):c.2149+8A>G rs199897920
NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu) rs867268264
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=) rs764479273
NM_001040142.2(SCN2A):c.2320C>T (p.Leu774Phe) rs1458651318
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.2506A>T (p.Met836Leu) rs1553578445
NM_001040142.2(SCN2A):c.2508G>A (p.Met836Ile) rs1559375240
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu)
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2661A>G (p.Val887=) rs749540280
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.2776C>G (p.His926Asp)
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2811C>T (p.Arg937=) rs779791354
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040142.2(SCN2A):c.2919+4T>C rs182428124
NM_001040142.2(SCN2A):c.2919+8G>A rs552318566
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_001040142.2(SCN2A):c.2985T>A (p.Asp995Glu) rs1336113495
NM_001040142.2(SCN2A):c.2987A>G (p.Asp996Gly)
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs) rs1553583659
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) rs769267899
NM_001040142.2(SCN2A):c.3065G>A (p.Arg1022His)
NM_001040142.2(SCN2A):c.3068A>T (p.Glu1023Val) rs1411722259
NM_001040142.2(SCN2A):c.3157A>G (p.Ile1053Val)
NM_001040142.2(SCN2A):c.3177A>G (p.Ile1059Met)
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met) rs765278777
NM_001040142.2(SCN2A):c.3261G>T (p.Val1087=) rs932319701
NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=) rs138143967
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3470C>G (p.Pro1157Arg) rs1553589034
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) rs201124054
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421
NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=) rs552725434
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3666_3668del (p.Ser1222_Gly1223delinsArg)
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020
NM_001040142.2(SCN2A):c.3811A>G (p.Thr1271Ala) rs1559395577
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.3944G>T (p.Arg1315Ile) rs796053129
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.3975T>G (p.Val1325=) rs1553593569
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn) rs1483179196
NM_001040142.2(SCN2A):c.4118A>G (p.Glu1373Gly)
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met) rs779140322
NM_001040142.2(SCN2A):c.4201G>C (p.Val1401Leu) rs1264909971
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
NM_001040142.2(SCN2A):c.4224A>G (p.Val1408=) rs1060504830
NM_001040142.2(SCN2A):c.422C>G (p.Thr141Ser) rs1553567082
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe) rs1559399522
NM_001040142.2(SCN2A):c.424A>G (p.Asn142Asp)
NM_001040142.2(SCN2A):c.4255-3C>T rs1553461654
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs) rs1553461662
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter)
NM_001040142.2(SCN2A):c.4414A>G (p.Ile1472Val) rs368657915
NM_001040142.2(SCN2A):c.4435C>G (p.Gln1479Glu) rs1553462134
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.4656C>T (p.Thr1552=) rs765041838
NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu) rs1558884200
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.4836T>A (p.Ala1612=)
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs)
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) rs1060503102
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4883T>C (p.Ile1628Thr) rs1553463420
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu)
NM_001040142.2(SCN2A):c.4892C>G (p.Ala1631Gly)
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val)
NM_001040142.2(SCN2A):c.5125del (p.Gln1709fs) rs1553463516
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_001040142.2(SCN2A):c.519A>G (p.Lys173=) rs200941759
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu) rs1558886061
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser) rs1558886146
NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs) rs1558886168
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_001040142.2(SCN2A):c.5364G>T (p.Glu1788Asp)
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.5412G>T (p.Lys1804Asn)
NM_001040142.2(SCN2A):c.5426C>T (p.Ala1809Val) rs1553463646
NM_001040142.2(SCN2A):c.5431C>G (p.Gln1811Glu)
NM_001040142.2(SCN2A):c.5465C>T (p.Ala1822Val) rs757542048
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_001040142.2(SCN2A):c.5488C>T (p.Leu1830Phe)
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=) rs371704720
NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser) rs1553463736
NM_001040142.2(SCN2A):c.5603A>G (p.Glu1868Gly) rs1553463750
NM_001040142.2(SCN2A):c.5654C>T (p.Ala1885Val) rs1553463800
NM_001040142.2(SCN2A):c.5662C>A (p.Pro1888Thr) rs1553463814
NM_001040142.2(SCN2A):c.5675C>T (p.Ser1892Phe) rs1558886841
NM_001040142.2(SCN2A):c.5721G>T (p.Val1907=) rs1060504829
NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys)
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=) rs1449263336
NM_001040142.2(SCN2A):c.5903C>G (p.Ser1968Cys)
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_001040142.2(SCN2A):c.5924A>G (p.Tyr1975Cys)
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_001040142.2(SCN2A):c.5955A>G (p.Lys1985=) rs572474239
NM_001040142.2(SCN2A):c.5984A>G (p.Asp1995Gly)
NM_001040142.2(SCN2A):c.599C>G (p.Thr200Ser)
NM_001040142.2(SCN2A):c.6009_6015TAAAAAG[1] (p.Ter2006LysextTer?)
NM_001040142.2(SCN2A):c.602T>C (p.Phe201Ser) rs1553567406
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.606-106T>C rs746904068
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.679A>G (p.Thr227Ala) rs1559352572
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala) rs1553567561
NM_001040142.2(SCN2A):c.697+3G>A rs754960917
NM_001040142.2(SCN2A):c.709_711delinsTTG (p.Ile237Leu) rs1559353139
NM_001040142.2(SCN2A):c.746C>T (p.Ser249Phe) rs1559353186
NM_001040142.2(SCN2A):c.813G>C (p.Met271Ile) rs1553567950
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_001040142.2(SCN2A):c.837G>A (p.Leu279=) rs776892826
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=) rs377200041
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) rs765714006
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102
NM_001040142.2(SCN2A):c.88G>A (p.Ala30Thr) rs1337092354
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667
NM_021007.2(SCN2A):c.961_970del (p.Glu321Valfs) rs1559353540

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