ClinVar Miner

List of variants studied for electroclinical syndrome by Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.5392G>T (p.Gly1798Cys) rs756006714
NM_032776.3(JMJD1C):c.1516C>G (p.Pro506Ala) rs1847769670
NM_145239.3(PRRT2):c.-65-1G>A rs1900052727

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