ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome by Claritas Genomics

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.623-20_623-12del rs786205200

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.