ClinVar Miner

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

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu) rs2229866 0.36917
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_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_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_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln) rs1601197103
NM_021267.5(CERS1):c.425T>A (p.Met142Lys) rs1601173083

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.