ClinVar Miner

List of variants reported as pathogenic for childhood-onset epilepsy syndrome by Department of Neurodegenerative Diseases, AG Gasser, Hertie Institute for Clinical Brain Research

Included ClinVar conditions (108):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_005506.4(SCARB2):c.134del (p.Asn45fs) rs1578733075

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