ClinVar Miner

List of variants reported as pathogenic for childhood-onset epilepsy syndrome by OMIM

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn) rs755440336 0.00006
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) rs190706099 0.00006
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln) rs774195502 0.00005
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val) rs758906955 0.00004
NM_020361.5(CPA6):c.587A>G (p.His196Arg) rs376266840 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
NC_000010.11:g.(93704377_?)_(?_93785620)del
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) rs1554514507
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) rs886037962
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC rs886037959
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) rs886037960
NM_001077350.3(NPRL3):c.349del (p.Glu117fs) rs1900088045
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs) rs886037958
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg) rs1577418477
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys) rs1554966197
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001199107.2(TBC1D24):c.1501G>A (p.Gly501Arg) rs1596973014
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs) rs879255234
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del) rs587776974
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1809+1del rs397514739
NM_001271.4(CHD2):c.1810-2A>C rs398122999
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro) rs749240316
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs) rs876657401
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003114.5(SPAG1):c.2542del (p.Asp848fs) rs886037653
NM_003114.5(SPAG1):c.679G>T (p.Glu227Ter) rs397518459
NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del) rs863223401
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) rs587777860
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.360-3C>A rs1589762127
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.431+1G>A rs2134001459
NM_005097.4(LGI1):c.611del (p.Pro204fs)
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075
NM_005506.4(SCARB2):c.1114-2A>C rs727502781
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro) rs886037965
NM_006545.5(NPRL2):c.68_69del (p.Ile23fs) rs886037966
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter) rs886037964
NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro) rs2105890565
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_021267.5(CERS1):c.549C>G (p.His183Gln) rs200024180
NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs) rs1977106116
NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs) rs1977105425
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr) rs797045143
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter) rs267607199
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met) rs387907263
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr) rs387907262
NM_153033.5(KCTD7):c.594del (p.Ile199fs) rs727502785
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile) rs387907261
NM_198904.4(GABRG2):c.1192C>T (p.Gln398Ter) rs121909674
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198904.4(GABRG2):c.529C>G (p.Arg177Gly) rs267606837
NM_198904.4(GABRG2):c.769+2T>G rs1561645243
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_198904.4(GABRG2):c.983A>T (p.Lys328Met) rs121909672

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