ClinVar Miner

List of variants in gene PLOD1 reported as benign for Ehlers-Danlos syndrome, hydroxylysine-deficient

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225

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.