ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome by Claritas Genomics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) rs786205180
NM_001110556.2(FLNA):c.137del (p.Gln46fs) rs786205181
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) rs786205188
NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) rs786205189
NM_001110556.2(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) rs786205191
NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) rs786205194
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) rs786205198
NM_001110556.2(FLNA):c.5019_5020TG[1] (p.Val1674fs) rs786205199
NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.2(FLNA):c.732dup (p.Glu245fs) rs786205203
NM_001110556.2(FLNA):c.987+1G>A rs786205204

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.