ClinVar Miner

List of variants in gene LIAS reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467 0.05609
NM_006859.4(LIAS):c.737+13A>T rs79572060 0.02580
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032 0.02579
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265 0.00187
NM_006859.4(LIAS):c.393+8C>A rs201574806 0.00149
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_006859.4(LIAS):c.393+10G>A rs372094616 0.00011
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949 0.00011

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.