ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Baylor Genetics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000090.3(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759

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.