List of variants in gene EFHC1 reported as risk factor for Myoclonic epilepsy, juvenile, susceptibility to, 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn)	rs137852777	0.00005
NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr)	rs137852778	0.00002
NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter)	rs137852781

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