ClinVar Miner

List of variants studied for epilepsy by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) rs150848976 0.00016
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009 0.00001
NC_000009.11:g.(?_131382516)_(131393966_?)del
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) rs1168374610
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001033044.4(GLUL):c.1A>G (p.Met1Val) rs1131691970
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr) rs1581069143
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly) rs1581069148
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His) rs2105384764
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.781G>T (p.Val261Leu) rs1057520413
NM_001040142.2(SCN2A):c.882del (p.Phe295fs) rs1553568045
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.[1046_1072del;1123AAG[1]1152_1282del]
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys) rs2144955129
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001134407.3(GRIN2A):c.1970_1978delinsT (p.Glu657fs)
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs) rs1601755632
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs) rs2054200651
NM_001326342.2(CELF2):c.241_262dup (p.Gln88fs)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) rs1602300014
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_003042.4(SLC6A1):c.1528-1G>C rs1574924801
NM_003042.4(SLC6A1):c.801del (p.Ile268fs) rs1574906665
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg) rs1361495767
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) rs1570752696
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro) rs869312700
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter) rs1554121861
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr) rs1553960788
NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) rs1554774322
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met)
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_021072.4(HCN1):c.628C>T (p.Pro210Ser) rs2112032137
NM_031844.3(HNRNPU):c.2425-2A>G rs1553281924
NM_052874.5(STX1B):c.160A>T (p.Lys54Ter) rs2143677745
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.803G>A (p.Arg268His) rs1131691679
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His) rs2081102604
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578

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