ClinVar Miner

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

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
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.3G>T (p.Met1Ile) rs868762895
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val) rs1602349641
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs) rs2148328679
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_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.806T>C (p.Leu269Pro) rs2124924369
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198

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