ClinVar Miner

List of variants in gene SYNE1 reported as likely pathogenic for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_182961.4(SYNE1):c.10608+1G>C rs1590998146
NM_182961.4(SYNE1):c.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)
NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn) rs746438011
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234

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.