ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val) rs751455326
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro) rs1400108198

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