ClinVar Miner

List of variants studied for myoclonic epilepsy, juvenile, susceptibility to, 1 by New York Genome Center

Included ClinVar conditions (4):

Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1
Myoclonic epilepsy, juvenile, susceptibility to, 1
Myoclonic epilepsy, juvenile, susceptibility to, 1; Epilepsy, juvenile absence, susceptibility to, 1
Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)	rs527295360	0.00013
NM_018100.4(EFHC1):c.21T>A (p.His7Gln)	rs775530837

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