ClinVar Miner

Variants in gene ALG8 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser) rs61995923 0.00050
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.369-6A>G rs201483866
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685

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.