ClinVar Miner

List of variants reported as pathogenic for epilepsy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001032221.6(STXBP1):c.663+1G>A rs1841240415
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_014795.4(ZEB2):c.3161_3162del (p.Pro1054fs)
NM_014795.4(ZEB2):c.463G>T (p.Glu155Ter)
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_031844.3(HNRNPU):c.584del (p.Ala195fs)
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)

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