ClinVar Miner

List of variants studied for Absence seizure; Juvenile myoclonic epilepsy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827 0.00019
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354 0.00008
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041 0.00003
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys) rs928396576
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) rs767704811

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