ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, musculocontractural type 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys)
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_013352.4(DSE):c.1897G>A (p.Val633Met) rs550208733
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_013352.4(DSE):c.355A>C (p.Asn119His)
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) rs398122361

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.