List of variants in gene EFHC1 studied for Myoclonic epilepsy, juvenile, susceptibility to, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

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_018100.4(EFHC1):c.628G>A (p.Asp210Asn)	rs137852777	0.00005
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter)	rs571448222	0.00002
NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr)	rs137852778	0.00002
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter)	rs796052414	0.00001
NM_018100.3(EFHC1):c.[229C>A;662G>A]
NM_018100.4(EFHC1):c.21T>A (p.His7Gln)	rs775530837
NM_018100.4(EFHC1):c.583G>C (p.Glu195Gln)
NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter)	rs137852781

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.