ClinVar Miner

List of variants reported as pathogenic for benign partial infantile seizures

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 219
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
GRCh37/hg19 16p11.2(chr16:29495011-30206548)
NC_000002.11:g.(?_165946660)_(166153665_?)del
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166210682)_(167168266_?)del
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.(?_165090130)_(165344931_?)del
NC_000002.12:g.(?_165090130)_(166311776_?)del
NC_000002.12:g.(?_165365123)_(165389844_?)del
NC_000016.10:g.(?_29813054)_(29813955_?)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.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.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.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.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.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.4377T>G (p.Phe1459Leu)
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.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter) rs1287017958
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.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.5144_5153del (p.Gly1715fs) rs2105402593
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.5563C>A (p.Leu1855Ile) rs2105403397
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.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.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.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.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
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_145239.3(PRRT2):c.-65-1G>A rs1900052727
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.397del (p.Glu133fs)
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_145239.3(PRRT2):c.880-1G>T rs1596893952
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.