List of variants studied for myoclonus-dystonia syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg)	rs1584700882
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)	rs121908489
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg)	rs1584692239
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser)
NM_003919.3(SGCE):c.549_552del (p.Phe183fs)	rs1554352952
NM_003919.3(SGCE):c.619del (p.Arg207fs)	rs1554352819
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser)	rs1584546494
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
NM_003919.3(SGCE):c.783dup (p.Phe262fs)	rs1189469219
NM_003919.3(SGCE):c.786del (p.Arg263fs)	rs1584546238
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)	rs372686312
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)

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.