ClinVar Miner

List of variants studied for epilepsy by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

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_001032221.6(STXBP1):c.692dup (p.Ile232fs) rs1564351388
NM_001040142.2(SCN2A):c.220G>A (p.Val74Met) rs1553564231
NM_001165963.4(SCN1A):c.5882T>C (p.Ile1961Thr) rs760676898
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
Single allele

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