ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, kyphoscoliotic type 1 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.579+1G>A rs797044448

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.