ClinVar Miner

List of variants studied for epilepsy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 534
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932 0.00011
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) rs746274631 0.00006
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp) rs762766720 0.00006
NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr) rs771224281 0.00006
NM_001365999.1(SZT2):c.4721G>A (p.Arg1574Gln) rs532357677 0.00005
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln) rs374269726 0.00004
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys) rs530150587 0.00004
NM_001365999.1(SZT2):c.8840G>A (p.Arg2947Gln) rs147484328 0.00004
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_020361.5(CPA6):c.442T>C (p.Trp148Arg) rs771067681 0.00004
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys) rs768284828 0.00004
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val) rs762396014 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001191061.2(SLC25A22):c.871C>T (p.Arg291Cys) rs762897089 0.00003
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His) rs528718802 0.00003
NM_001100913.3(PACS2):c.502G>A (p.Glu168Lys) rs374606643 0.00002
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val) rs767399516 0.00002
NM_001161352.2(KCNMA1):c.1849A>G (p.Thr617Ala) rs199572642 0.00002
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_018129.4(PNPO):c.364-1G>A rs774710082 0.00002
NM_052876.4(NACC1):c.476C>T (p.Pro159Leu) rs752352154 0.00002
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001100913.3(PACS2):c.1813G>A (p.Val605Met) rs782312228 0.00001
NM_001100913.3(PACS2):c.2272G>A (p.Glu758Lys) rs140331410 0.00001
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln) rs267605294 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro) rs776055539 0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585 0.00001
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981 0.00001
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln) rs775080915 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys) rs780652126 0.00001
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu) rs755174447 0.00001
NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser) rs1064795301 0.00001
NM_001365999.1(SZT2):c.8225G>A (p.Arg2742His) rs763615703 0.00001
NM_001367561.1(DOCK7):c.3820A>G (p.Thr1274Ala) rs764297200 0.00001
NM_001367561.1(DOCK7):c.513T>G (p.Asp171Glu) rs1245720882 0.00001
NM_002641.4(PIGA):c.854G>A (p.Arg285His) rs1569178381 0.00001
NM_004171.4(SLC1A2):c.107G>A (p.Arg36His) rs980878522 0.00001
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys) rs1485891906 0.00001
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) rs769948178 0.00001
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) rs868728039 0.00001
NM_006922.4(SCN3A):c.83G>A (p.Arg28His) rs775711350 0.00001
NM_014795.4(ZEB2):c.1028G>A (p.Arg343Gln) rs746958005 0.00001
NM_015178.3(RHOBTB2):c.1834G>A (p.Val612Ile) rs1158005108 0.00001
NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp) rs767630251 0.00001
NM_015192.4(PLCB1):c.3304T>C (p.Tyr1102His) rs376179077 0.00001
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys) rs549477447 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter) rs869025280 0.00001
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) rs119454948 0.00001
NM_052876.4(NACC1):c.503C>T (p.Thr168Met) rs775567968 0.00001
NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val) rs779430808 0.00001
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter) rs769144119 0.00001
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000702.4(ATP1A2):c.1547C>T (p.Ser516Phe)
NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys)
NM_000702.4(ATP1A2):c.2942+7G>C
NM_000702.4(ATP1A2):c.589G>T (p.Val197Phe)
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu) rs2123471262
NM_000748.3(CHRNB2):c.821T>A (p.Leu274Gln)
NM_000807.4(GABRA2):c.527A>G (p.Asp176Gly)
NM_000810.4(GABRA5):c.1372G>C (p.Ala458Pro)
NM_000810.4(GABRA5):c.313A>G (p.Lys105Glu)
NM_000810.4(GABRA5):c.998C>T (p.Ser333Leu) rs376507743
NM_000812.4(GABRB1):c.1108A>G (p.Ser370Gly)
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)
NM_000815.5(GABRD):c.1049C>T (p.Pro350Leu)
NM_000817.3(GAD1):c.938G>A (p.Cys313Tyr)
NM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser)
NM_000834.5(GRIN2B):c.1957T>C (p.Phe653Leu)
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.2009A>T (p.Lys670Met)
NM_000834.5(GRIN2B):c.2555G>A (p.Gly852Asp)
NM_000834.5(GRIN2B):c.2699G>A (p.Arg900His)
NM_000834.5(GRIN2B):c.3073A>T (p.Ile1025Phe)
NM_000834.5(GRIN2B):c.3632G>A (p.Gly1211Glu) rs1255161034
NM_000834.5(GRIN2B):c.3839A>C (p.Lys1280Thr)
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_000836.4(GRIN2D):c.1033G>A (p.Gly345Ser)
NM_000836.4(GRIN2D):c.1126T>C (p.Phe376Leu)
NM_000836.4(GRIN2D):c.191C>T (p.Ala64Val)
NM_000836.4(GRIN2D):c.2957G>T (p.Gly986Val)
NM_000836.4(GRIN2D):c.3242G>A (p.Gly1081Asp)
NM_000836.4(GRIN2D):c.3340G>A (p.Asp1114Asn)
NM_000836.4(GRIN2D):c.3422A>T (p.Tyr1141Phe)
NM_000836.4(GRIN2D):c.3581A>C (p.His1194Pro)
NM_000836.4(GRIN2D):c.3923C>G (p.Pro1308Arg)
NM_000836.4(GRIN2D):c.4C>A (p.Arg2Ser)
NM_000944.5(PPP3CA):c.1513T>C (p.Ser505Pro)
NM_000944.5(PPP3CA):c.83G>A (p.Arg28Gln)
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1337T>C (p.Leu446Pro)
NM_001032221.6(STXBP1):c.1428dup (p.Arg477fs)
NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)
NM_001032221.6(STXBP1):c.429+2T>G
NM_001032221.6(STXBP1):c.526A>T (p.Ile176Phe) rs2131462854
NM_001032221.6(STXBP1):c.553G>A (p.Glu185Lys)
NM_001032221.6(STXBP1):c.698T>C (p.Leu233Pro) rs1588319482
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.289G>C (p.Gly97Arg)
NM_001037333.3(CYFIP2):c.3698C>G (p.Ser1233Cys)
NM_001037333.3(CYFIP2):c.992+7G>T
NM_001040142.2(SCN2A):c.1396_1401dup (p.Ala466_Ala467dup) rs754615123
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val) rs1017711579
NM_001040142.2(SCN2A):c.209C>T (p.Pro70Leu)
NM_001040142.2(SCN2A):c.2189A>T (p.Tyr730Phe)
NM_001040142.2(SCN2A):c.235G>C (p.Glu79Gln) rs1402926276
NM_001040142.2(SCN2A):c.2539T>C (p.Ser847Pro) rs1699366480
NM_001040142.2(SCN2A):c.2626A>T (p.Asn876Tyr)
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2703G>C (p.Gln901His)
NM_001040142.2(SCN2A):c.2714A>C (p.Lys905Thr)
NM_001040142.2(SCN2A):c.2755G>A (p.Glu919Lys)
NM_001040142.2(SCN2A):c.2764C>T (p.Arg922Cys) rs1008211605
NM_001040142.2(SCN2A):c.2860G>A (p.Ala954Thr)
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.400C>G (p.Leu134Val)
NM_001040142.2(SCN2A):c.4022T>C (p.Leu1341Pro)
NM_001040142.2(SCN2A):c.4494C>G (p.Tyr1498Ter)
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
NM_001040142.2(SCN2A):c.4724C>T (p.Thr1575Ile)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.5011A>T (p.Met1671Leu)
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe) rs1553463676
NM_001040142.2(SCN2A):c.5801A>C (p.Lys1934Thr)
NM_001040142.2(SCN2A):c.584A>G (p.Asp195Gly) rs1697272149
NM_001040142.2(SCN2A):c.5938A>G (p.Lys1980Glu) rs2105404303
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.787G>T (p.Ala263Ser)
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001099922.3(ALG13):c.2783C>T (p.Pro928Leu)
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.654T>G (p.Asn218Lys)
NM_001100913.3(PACS2):c.148G>A (p.Val50Met)
NM_001100913.3(PACS2):c.2268del (p.Ala757fs)
NM_001100913.3(PACS2):c.2479A>C (p.Lys827Gln)
NM_001100913.3(PACS2):c.7G>C (p.Glu3Gln) rs1315973258
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) rs2145005448
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys) rs781026181
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr) rs2144523250
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.7055A>G (p.Asp2352Gly)
NM_001127222.2(CACNA1A):c.7133A>C (p.Glu2378Ala)
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)
NM_001130021.3(ATP6V0A1):c.1471G>A (p.Glu491Lys)
NM_001130021.3(ATP6V0A1):c.2471C>G (p.Pro824Arg)
NM_001130438.3(SPTAN1):c.2012-3T>C
NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)
NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln) rs763315364
NM_001134407.3(GRIN2A):c.1322A>G (p.Lys441Arg)
NM_001134407.3(GRIN2A):c.3174C>A (p.His1058Gln) rs1064796658
NM_001134407.3(GRIN2A):c.3385C>T (p.His1129Tyr)
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
NM_001134407.3(GRIN2A):c.794C>T (p.Thr265Met) rs747214620
NM_001134407.3(GRIN2A):c.92C>G (p.Pro31Arg)
NM_001134407.3(GRIN2A):c.934T>G (p.Tyr312Asp) rs2044756352
NM_001161352.2(KCNMA1):c.2096A>G (p.Lys699Arg)
NM_001161352.2(KCNMA1):c.2170A>C (p.Met724Leu)
NM_001161352.2(KCNMA1):c.2974T>G (p.Ser992Ala)
NM_001165963.4(SCN1A):c.1033T>A (p.Cys345Ser)
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)
NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs)
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2167del (p.Thr723fs)
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2589+1G>C
NM_001165963.4(SCN1A):c.2839G>C (p.Val947Leu) rs796052986
NM_001165963.4(SCN1A):c.2945T>C (p.Val982Ala)
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser) rs1343188948
NM_001165963.4(SCN1A):c.3094G>A (p.Glu1032Lys)
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs) rs1696358124
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr) rs528170959
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
NM_001165963.4(SCN1A):c.3776T>A (p.Phe1259Tyr)
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr) rs1064795355
NM_001165963.4(SCN1A):c.383+2T>C
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)
NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp) rs1573984593
NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr) rs2105476040
NM_001165963.4(SCN1A):c.4477-1C>T rs1553521567
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4712C>T (p.Thr1571Ile)
NM_001165963.4(SCN1A):c.4769T>G (p.Leu1590Arg)
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer)
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu)
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr) rs121917949
NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)
NM_001165963.4(SCN1A):c.5226C>A (p.Asp1742Glu)
NM_001165963.4(SCN1A):c.5354T>C (p.Ile1785Thr) rs2105428907
NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser) rs368798811
NM_001165963.4(SCN1A):c.5573G>T (p.Ser1858Ile)
NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs)
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.5877_5879del (p.Met1959del) rs2105421697
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.751A>G (p.Met251Val) rs2105890375
NM_001165963.4(SCN1A):c.761C>T (p.Thr254Ile)
NM_001165963.4(SCN1A):c.773T>C (p.Leu258Pro)
NM_001165963.4(SCN1A):c.793G>C (p.Gly265Arg)
NM_001182.5(ALDH7A1):c.1318-8C>T
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001182.5(ALDH7A1):c.263_264del (p.Asp87_Tyr88insTer)
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1238G>C (p.Arg413Pro) rs2147539292
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.218A>G (p.Asp73Gly)
NM_001184880.2(PCDH19):c.2221_2222delinsCT (p.Ser741Leu)
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter) rs770935301
NM_001184880.2(PCDH19):c.2705A>G (p.Asn902Ser)
NM_001184880.2(PCDH19):c.2893G>C (p.Gly965Arg)
NM_001184880.2(PCDH19):c.901_906delinsGCCAGTGACAGT (p.Thr301_Gly302delinsAlaSerAspSer)
NM_001191061.2(SLC25A22):c.581T>G (p.Leu194Arg)
NM_001191061.2(SLC25A22):c.94G>C (p.Ala32Pro)
NM_001199107.2(TBC1D24):c.1143G>T (p.Arg381Ser)
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
NM_001199107.2(TBC1D24):c.571T>C (p.Cys191Arg)
NM_001205293.3(CACNA1E):c.110C>G (p.Ala37Gly)
NM_001205293.3(CACNA1E):c.133C>G (p.Gln45Glu)
NM_001205293.3(CACNA1E):c.1621A>G (p.Asn541Asp)
NM_001205293.3(CACNA1E):c.2278G>A (p.Glu760Lys)
NM_001205293.3(CACNA1E):c.2740C>T (p.His914Tyr)
NM_001205293.3(CACNA1E):c.3190A>G (p.Thr1064Ala)
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)
NM_001205293.3(CACNA1E):c.6869G>T (p.Gly2290Val)
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
NM_001242896.3(DEPDC5):c.1891del (p.Gln631fs)
NM_001242896.3(DEPDC5):c.2105G>A (p.Gly702Asp)
NM_001242896.3(DEPDC5):c.2189C>A (p.Pro730His)
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile) rs2149008846
NM_001242896.3(DEPDC5):c.2990G>A (p.Arg997His)
NM_001242896.3(DEPDC5):c.3887T>C (p.Val1296Ala)
NM_001242896.3(DEPDC5):c.4465del (p.Ala1489fs)
NM_001242896.3(DEPDC5):c.704C>G (p.Pro235Arg)
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe) rs778656662
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001271.4(CHD2):c.1053-2A>T
NM_001271.4(CHD2):c.1823G>A (p.Ser608Asn)
NM_001271.4(CHD2):c.1961A>G (p.Lys654Arg)
NM_001271.4(CHD2):c.2647G>A (p.Val883Ile)
NM_001271.4(CHD2):c.3780G>C (p.Glu1260Asp)
NM_001271.4(CHD2):c.381+3A>G
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser) rs754463281
NM_001271.4(CHD2):c.688G>A (p.Val230Ile) rs762370978
NM_001278512.2(AP3B2):c.1129del (p.Tyr376_Leu377insTer)
NM_001322830.2(KCNMA1):c.3620A>G (p.Lys1207Arg)
NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)
NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)
NM_001323289.2(CDKL5):c.1744del (p.Ser582fs)
NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg) rs2147142685
NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile) rs2147092100
NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001326342.2(CELF2):c.1015A>T (p.Met339Leu)
NM_001330260.2(SCN8A):c.1179G>T (p.Leu393Phe)
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys) rs1308021407
NM_001330260.2(SCN8A):c.1904G>A (p.Arg635His)
NM_001330260.2(SCN8A):c.2256C>A (p.Asp752Glu)
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)
NM_001330260.2(SCN8A):c.3422C>T (p.Pro1141Leu)
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4885C>T (p.Arg1629Cys) rs1592174265
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser) rs2147114604
NM_001365999.1(SZT2):c.1108_1111del (p.Phe370fs)
NM_001365999.1(SZT2):c.3689C>T (p.Ala1230Val) rs553638915
NM_001365999.1(SZT2):c.4401+1G>A
NM_001365999.1(SZT2):c.5088+2T>C rs552956642
NM_001365999.1(SZT2):c.6253_6255del (p.Tyr2085del)
NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs)
NM_001367561.1(DOCK7):c.2503A>C (p.Asn835His) rs747830413
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
NM_001367561.1(DOCK7):c.4924-1G>A rs2149301822
NM_001371727.1(GABRB2):c.344T>C (p.Leu115Pro)
NM_001371727.1(GABRB2):c.805G>A (p.Asp269Asn)
NM_001378120.1(MBD5):c.3981T>G (p.Asp1327Glu)
NM_001378457.1(DMXL2):c.2522A>G (p.Asn841Ser)
NM_001393504.1(MAST3):c.1102G>A (p.Glu368Lys)
NM_001393504.1(MAST3):c.1350T>G (p.Phe450Leu)
NM_001393504.1(MAST3):c.1876A>G (p.Ile626Val)
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp) rs751300562
NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)
NM_001690.4(ATP6V1A):c.1282A>T (p.Ile428Phe)
NM_001690.4(ATP6V1A):c.1660G>A (p.Ala554Thr)
NM_001690.4(ATP6V1A):c.280A>G (p.Ile94Val)
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.442C>A (p.Leu148Ile)
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_003042.4(SLC6A1):c.1252A>C (p.Asn418His)
NM_003042.4(SLC6A1):c.884C>T (p.Ser295Leu) rs1574907241
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003359.4(UGDH):c.1136A>T (p.Asp379Val)
NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)
NM_003705.5(SLC25A12):c.274_276del (p.Ile92del)
NM_003705.5(SLC25A12):c.622G>A (p.Gly208Arg)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.457G>A (p.Glu153Lys)
NM_004113.6(FGF12):c.83A>T (p.Asp28Val)
NM_004114.5(FGF13):c.127T>G (p.Leu43Val)
NM_004114.5(FGF13):c.589A>G (p.Lys197Glu)
NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)
NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val) rs2134887083
NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr) rs1851734643
NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln) rs750533490
NM_004341.5(CAD):c.5828T>G (p.Val1943Gly)
NM_004341.5(CAD):c.6436C>G (p.Arg2146Gly)
NM_004366.6(CLCN2):c.2270C>T (p.Ala757Val)
NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr)
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.1443C>G (p.Ile481Met)
NM_004408.4(DNM1):c.1781+4C>T
NM_004408.4(DNM1):c.1892G>A (p.Gly631Glu)
NM_004408.4(DNM1):c.2369del (p.Pro790fs)
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly) rs1316212573
NM_004519.4(KCNQ3):c.2519C>T (p.Thr840Ile)
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)
NM_004974.4(KCNA2):c.621C>A (p.Asn207Lys)
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.2325dup (p.Lys776fs)
NM_004975.4(KCNB1):c.31C>A (p.Arg11Ser)
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr)
NM_004975.4(KCNB1):c.926A>G (p.Lys309Arg)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_005045.4(RELN):c.3842A>T (p.Lys1281Ile)
NM_005045.4(RELN):c.5995G>A (p.Val1999Ile) rs1830457350
NM_005045.4(RELN):c.8684G>A (p.Arg2895His)
NM_005097.4(LGI1):c.1487A>T (p.Tyr496Phe) rs2134027009
NM_005097.4(LGI1):c.1570T>G (p.Ser524Ala)
NM_005249.5(FOXG1):c.142C>T (p.His48Tyr)
NM_005249.5(FOXG1):c.233_234insA (p.Pro79fs)
NM_005249.5(FOXG1):c.233_234insAA (p.Pro79fs) rs2138660420
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.803del (p.Gly268fs)
NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter)
NM_005458.8(GABBR2):c.2360G>A (p.Arg787His) rs578253809
NM_005458.8(GABBR2):c.2527T>G (p.Phe843Val)
NM_005670.4(EPM2A):c.377T>C (p.Ile126Thr)
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)
NM_005670.4(EPM2A):c.82_154del (p.Glu28fs)
NM_005765.3(ATP6AP2):c.365C>A (p.Pro122His)
NM_006160.4(NEUROD2):c.208T>G (p.Leu70Val)
NM_006160.4(NEUROD2):c.659G>T (p.Gly220Val)
NM_006180.6(NTRK2):c.1429T>A (p.Ser477Thr)
NM_006279.5(ST3GAL3):c.397+2T>C rs200255759
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006306.4(SMC1A):c.595G>A (p.Ala199Thr)
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)
NM_006516.4(SLC2A1):c.964del (p.Val322fs)
NM_006545.5(NPRL2):c.1080G>A (p.Met360Ile)
NM_006545.5(NPRL2):c.932G>A (p.Arg311Gln)
NM_006545.5(NPRL2):c.995G>A (p.Arg332Gln)
NM_006651.4(CPLX1):c.188G>A (p.Arg63His)
NM_006651.4(CPLX1):c.210C>G (p.Tyr70Ter)
NM_006759.4(UGP2):c.1265G>A (p.Arg422Gln)
NM_006772.3(SYNGAP1):c.1851G>T (p.Glu617Asp)
NM_006772.3(SYNGAP1):c.2186A>G (p.Asn729Ser)
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.3192G>C (p.Gln1064His)
NM_006772.3(SYNGAP1):c.670A>G (p.Thr224Ala) rs1777305165
NM_006922.4(SCN3A):c.3050A>C (p.Tyr1017Ser)
NM_006922.4(SCN3A):c.3328T>G (p.Ser1110Ala) rs2105761872
NM_006922.4(SCN3A):c.3683T>C (p.Ile1228Thr)
NM_006922.4(SCN3A):c.4431+1A>G
NM_006922.4(SCN3A):c.5047G>T (p.Glu1683Ter)
NM_006922.4(SCN3A):c.5947A>C (p.Lys1983Gln) rs774354894
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr) rs772106134
NM_007198.4(PLPBP):c.19A>C (p.Met7Leu)
NM_007198.4(PLPBP):c.19A>G (p.Met7Val)
NM_007254.4(PNKP):c.1314_1317dup (p.Ala440fs)
NM_007254.4(PNKP):c.356C>A (p.Pro119Gln) rs1477930328
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp) rs368301643
NM_014467.3(SRPX2):c.466G>C (p.Glu156Gln)
NM_014795.4(ZEB2):c.2290T>C (p.Ser764Pro) rs2149876703
NM_014795.4(ZEB2):c.2327A>G (p.Asp776Gly) rs1553961558
NM_014795.4(ZEB2):c.2707G>A (p.Ala903Thr) rs730881200
NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln) rs2149875484
NM_014795.4(ZEB2):c.3210C>G (p.Tyr1070Ter) rs2149872632
NM_014795.4(ZEB2):c.329del (p.Pro110fs)
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val) rs1360979536
NM_014795.4(ZEB2):c.703G>A (p.Glu235Lys) rs1553962069
NM_015076.5(CDK19):c.1486T>A (p.Ser496Thr)
NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys) rs1783517622
NM_015176.4(FBXO28):c.517-4T>A
NM_015178.3(RHOBTB2):c.1067del (p.Gly356fs)
NM_015178.3(RHOBTB2):c.1072G>A (p.Gly358Ser)
NM_015178.3(RHOBTB2):c.1342A>G (p.Ile448Val)
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.2064G>C (p.Glu688Asp)
NM_015178.3(RHOBTB2):c.2140G>A (p.Ala714Thr)
NM_015178.3(RHOBTB2):c.494C>A (p.Pro165His)
NM_015178.3(RHOBTB2):c.610A>T (p.Ile204Phe)
NM_015178.3(RHOBTB2):c.892A>G (p.Met298Val)
NM_015178.3(RHOBTB2):c.945C>A (p.His315Gln)
NM_015192.4(PLCB1):c.469A>G (p.Thr157Ala) rs2123290762
NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)
NM_015192.4(PLCB1):c.928G>A (p.Glu310Lys)
NM_015267.4(CUX2):c.1486G>C (p.Ala496Pro)
NM_015267.4(CUX2):c.167T>C (p.Val56Ala)
NM_015267.4(CUX2):c.2435C>T (p.Ser812Phe)
NM_015267.4(CUX2):c.2482G>C (p.Asp828His) rs1887467909
NM_015267.4(CUX2):c.485G>C (p.Ser162Thr)
NM_016023.5(OTUD6B):c.189_190del (p.His63fs) rs779499353
NM_016023.5(OTUD6B):c.326C>G (p.Ala109Gly)
NM_016023.5(OTUD6B):c.677G>T (p.Gly226Val) rs2130440842
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter) rs200839945
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln) rs104894631
NM_020361.5(CPA6):c.1007A>G (p.Tyr336Cys)
NM_020361.5(CPA6):c.1205C>A (p.Thr402Asn)
NM_020361.5(CPA6):c.1223T>C (p.Leu408Ser)
NM_020771.4(HACE1):c.2211+3_2211+6del
NM_020771.4(HACE1):c.350T>C (p.Leu117Ser)
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1473C>G (p.Ile491Met)
NM_020822.3(KCNT1):c.1510+8T>G
NM_020822.3(KCNT1):c.1862C>T (p.Thr621Ile) rs151006970
NM_020822.3(KCNT1):c.2125_2137dup (p.Val713fs)
NM_020822.3(KCNT1):c.2397G>T (p.Lys799Asn)
NM_020822.3(KCNT1):c.2531A>T (p.His844Leu) rs1833337197
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile) rs1172819191
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp) rs771326200
NM_020822.3(KCNT1):c.3466C>G (p.Arg1156Gly)
NM_020822.3(KCNT1):c.56_75dup (p.Thr26fs)
NM_020822.3(KCNT1):c.67A>C (p.Thr23Pro)
NM_020988.3(GNAO1):c.674G>A (p.Cys225Tyr)
NM_021072.4(HCN1):c.159C>A (p.His53Gln)
NM_021072.4(HCN1):c.1917C>G (p.Ile639Met)
NM_021072.4(HCN1):c.2230C>T (p.Pro744Ser)
NM_021072.4(HCN1):c.2654G>T (p.Arg885Leu)
NM_021072.4(HCN1):c.57C>A (p.Ser19Arg)
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) rs750607074
NM_022786.3(ARV1):c.573_574del (p.Leu192fs)
NM_024818.6(UBA5):c.297+2T>C
NM_030948.6(PHACTR1):c.259G>A (p.Val87Met)
NM_030948.6(PHACTR1):c.580C>G (p.Leu194Val)
NM_030948.6(PHACTR1):c.964A>G (p.Met322Val)
NM_031844.3(HNRNPU):c.1271A>G (p.Asn424Ser)
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_032108.4(SEMA6B):c.17C>T (p.Ala6Val)
NM_033453.4(ITPA):c.253G>A (p.Gly85Ser)
NM_052876.4(NACC1):c.1079A>G (p.Tyr360Cys)
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.2T>C (p.Met1Thr)
NM_139058.3(ARX):c.596C>A (p.Thr199Lys)
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)
NM_139137.4(KCNC2):c.1647G>C (p.Glu549Asp)
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_152268.4(PARS2):c.294G>A (p.Met98Ile)
NM_152296.5(ATP1A3):c.1654G>A (p.Glu552Lys)
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro) rs2075159021
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del) rs606231443
NM_152743.4(BRAT1):c.196C>T (p.Gln66Ter)
NM_153033.5(KCTD7):c.294C>T (p.Asp98=)
NM_153033.5(KCTD7):c.569T>C (p.Val190Ala)
NM_172107.4(KCNQ2):c.1243C>T (p.Pro415Ser)
NM_172107.4(KCNQ2):c.1549_1550insAGATGTC (p.Ile517fs)
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
NM_172107.4(KCNQ2):c.1632-5T>A
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.403GTG[1] (p.Val136del)
NM_172107.4(KCNQ2):c.553G>T (p.Ala185Ser) rs1600786349
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.691G>A (p.Glu231Lys)
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr) rs2145735332
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_173354.5(SIK1):c.1463G>T (p.Cys488Phe)
NM_173354.5(SIK1):c.1658A>C (p.Gln553Pro)
NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser) rs772047499
NM_173354.5(SIK1):c.2099C>T (p.Thr700Ile)
NM_173354.5(SIK1):c.2117T>A (p.Leu706His)
NM_173354.5(SIK1):c.2336T>A (p.Phe779Tyr)
NM_183381.3(RNF13):c.106A>G (p.Ile36Val)
NM_198503.5(KCNT2):c.11T>G (p.Leu4Trp)
NM_198503.5(KCNT2):c.143_144del (p.Leu48fs) rs1572630269
NM_198503.5(KCNT2):c.86A>G (p.Asn29Ser)
NM_198586.3(NHLRC1):c.130C>G (p.Leu44Val)

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