ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by New York Genome Center

Included ClinVar conditions (91):
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ClinVar version:
Total variants: 108
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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_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu) rs121912268 0.00024
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303 0.00022
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys) rs560167568 0.00014
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 0.00011
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_006922.4(SCN3A):c.2391+3A>G rs369416840 0.00009
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_001134407.3(GRIN2A):c.1008-22395A>T rs909654359 0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp) rs767801199 0.00006
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377 0.00005
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) rs200031995 0.00005
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) rs199999862 0.00004
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp) rs200299051 0.00004
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) rs376264061 0.00004
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val) rs529069517 0.00004
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser) rs779002595 0.00004
NM_005045.4(RELN):c.8051G>A (p.Arg2684His) rs201157987 0.00004
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met) rs772999261 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_006545.5(NPRL2):c.694G>A (p.Val232Ile) rs767088341 0.00003
NM_020361.5(CPA6):c.127A>G (p.Ile43Val) rs766547893 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) rs770305730 0.00002
NM_001077350.3(NPRL3):c.318+3A>T rs746765533 0.00002
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val) rs777790535 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu) rs752422797 0.00001
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys) rs752289948 0.00001
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) rs1049048240 0.00001
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) rs922186544 0.00001
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys) rs756406057 0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C rs558650814 0.00001
NM_003042.4(SLC6A1):c.582-3C>T rs368174761 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847 0.00001
NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr) rs1184255602 0.00001
NM_005045.4(RELN):c.7963A>G (p.Ile2655Val) rs1829536442 0.00001
NM_005097.4(LGI1):c.1129T>C (p.Tyr377His) rs758203843 0.00001
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met) rs762536754 0.00001
NM_032108.4(SEMA6B):c.2111C>T (p.Ser704Leu) rs918065842 0.00001
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu) rs1328763941 0.00001
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr) rs1265886356 0.00001
NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu) rs2132652645
NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr) rs377087067
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del) rs796052329
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys) rs1892475061
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) rs2140730286
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe) rs2140696672
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.394-1747del rs2141952986
NM_001077350.3(NPRL3):c.653G>C (p.Arg218Pro) rs201341279
NM_001134407.3(GRIN2A):c.1007+5923G>C rs2141611422
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu) rs2141136377
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3792G>A (p.Glu1264=) rs2141129533
NM_001134407.3(GRIN2A):c.415-89902G>A rs2141916983
NM_001134407.3(GRIN2A):c.4319C>T (p.Ser1440Phe) rs752489703
NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala) rs59975221
NM_001161352.2(KCNMA1):c.1224-326G>C rs2153793727
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) rs147369374
NM_001161352.2(KCNMA1):c.379-114292C>G rs2154549804
NM_001161352.2(KCNMA1):c.379-51304del rs2154521818
NM_001199107.2(TBC1D24):c.-116+125A>C rs2141848023
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001242896.3(DEPDC5):c.1081+4A>G rs757563918
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro) rs2148665735
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr) rs1483477312
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp) rs780294726
NM_001271.4(CHD2):c.2189+8C>T rs1486555733
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu) rs1172858416
NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe) rs2124926302
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1477T>C (p.Cys493Arg) rs2124942534
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_004408.4(DNM1):c.2535-613C>T rs1385389663
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile) rs767519770
NM_005045.4(RELN):c.8063A>T (p.Asp2688Val) rs1829532646
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter) rs2109365845
NM_006922.4(SCN3A):c.-50-2312T>C rs1690638367
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr) rs2105833109
NM_015973.5(GAL):c.16G>A (p.Ala6Thr) rs760551954
NM_018100.4(EFHC1):c.21T>A (p.His7Gln) rs775530837
NM_020361.5(CPA6):c.117-25562dup rs996734526
NM_020361.5(CPA6):c.192+29464G>T rs2128981874
NM_020361.5(CPA6):c.20G>T (p.Arg7Leu) rs373565150
NM_020361.5(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His) rs748173327
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_198586.3(NHLRC1):c.1063C>T (p.Pro355Ser) rs1783733228
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu) rs747372679
Single allele

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