ClinVar Miner

List of variants studied for nutritional deficiency disease by Center of Excellence for Medical Genomics, Chulalongkorn University

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter) rs757377110 0.00002
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.1327G>T (p.Glu443Ter)
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.5(ALDH7A1):c.388_518-1428del
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_018129.3(PNPO):c.620delG
NM_018129.4(PNPO):c.546+1G>A
Single allele

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.