ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by Mendelics

Included ClinVar conditions (91):
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ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965 0.00019
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948 0.00009
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val) rs199528312 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg) rs121909054
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) rs1596494610
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser) rs1006328489
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly) rs797045015
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs) rs1419346546
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile) rs1185300490
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs) rs1215972111
NM_001134407.3(GRIN2A):c.3339_3342del (p.Arg1114fs) rs1379582796
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu) rs1440127051
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile) rs868762895
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs) rs2141124790
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs) rs2153773364
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val) rs1602349641
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs) rs2148328679
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg) rs1601925119
NM_001242896.3(DEPDC5):c.947-1G>A rs2148633437
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del) rs2124930894
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg) rs1064795290
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro) rs2124924369
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_014467.3(SRPX2):c.602C>T (p.Ala201Val) rs915881767
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln) rs1601197103
NM_021267.5(CERS1):c.425T>A (p.Met142Lys) rs1601173083
NM_198904.4(GABRG2):c.1A>G (p.Met1Val) rs1581275976
NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser) rs2113632484

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