ClinVar Miner

List of variants reported as pathogenic for epilepsy by Center of Excellence for Medical Genomics, Chulalongkorn University

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter) rs757377110 0.00002
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe) rs1595438243
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.170-1G>C rs112002192
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001182.5(ALDH7A1):c.1327G>T (p.Glu443Ter)
NM_001182.5(ALDH7A1):c.388_518-1428del
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_002641.4(PIGA):c.1030_1032del (p.Leu344del) rs587777399
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg) rs886037942
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter) rs1392520466
NM_005249.5(FOXG1):c.841del (p.Arg281fs)
NM_006306.4(SMC1A):c.3123del (p.Ser1042fs)
NM_018129.3(PNPO):c.620delG
NM_018129.4(PNPO):c.546+1G>A
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2479A>T (p.Arg827Trp)
NM_152296.5(ATP1A3):c.2552A>C (p.Gln851Pro)
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys) rs770187706
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
Single allele

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