ClinVar Miner

List of variants reported as uncertain significance for Myoclonic epilepsy, juvenile, susceptibility to, 1 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)	rs3804505	0.05453
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)	rs137852776	0.00242
NM_018100.3(EFHC1):c.[229C>A;662G>A]

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