ClinVar Miner

List of variants studied for galactosemia by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_000154.2(GALK1):c.166-5_227dup rs2143605351
NM_000155.4(GALT):c.1060-331G>C rs2132347271

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.