ClinVar Miner

List of variants reported as uncertain significance for megalencephalic leukoencephalopathy with subcortical cysts by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.259G>A (p.Val87Ile) rs142346902 0.00050
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00020
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu) rs145484765 0.00015
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.177G>A (p.Gly59=) rs2062237520
NM_152722.5(HEPACAM):c.665C>T (p.Pro222Leu) rs1947170395
NM_152722.5(HEPACAM):c.922A>G (p.Met308Val) rs1947151824

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.