ClinVar Miner

List of variants studied for epilepsy by Section for Clinical Neurogenetics, University of Tübingen

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) rs587777127
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_203446.3(SYNJ1):c.1157G>T (p.Cys386Phe) rs2041732521

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