ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.370-16C>T rs148220961
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_001278074.1(COL5A1):c.2331+16G>A rs199654385
NM_001278074.1(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_001278074.1(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_001278074.1(COL5A1):c.492-3C>T rs1027866868
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.787-15G>A rs150200872

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.