ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu) rs1391158579 0.00001
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr) rs1485749468
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650

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