ClinVar Miner

List of variants in gene combination LDLR, MIR6886 reported as pathogenic by LDLR-LOVD, British Heart Foundation

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NG_009060.1(LDLR):g.[18284_22307del4024;27134_45290dup18157]
NG_009060.1(LDLR):g.[27134_32618del5485;4982_15965del10984]
NM_000527.4(LDLR):c.1186+700_2141-545del
NM_000527.4(LDLR):c.1187-169_2312-790del
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1359-5C>G rs531005522
NM_000527.4(LDLR):c.190+984_1846-1160del
NM_000527.4(LDLR):c.695-67_1586+371del
c.1197_2205del
c.941-2966_*2583+4485del

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.