ClinVar Miner

List of variants in gene ASS1, LOC130002809 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_054012.3(ASS1):c.-172C>T rs142263406 0.00899
NM_054012.3(ASS1):c.-175G>A rs569832736 0.00465
NM_054012.3(ASS1):c.-171G>A rs886063529 0.00063
NM_054012.3(ASS1):c.-146_-145dup rs886063530
NM_054012.3(ASS1):c.-185A>G rs886063528
NM_054012.3(ASS1):c.-203C>G rs886063527
NM_054012.3(ASS1):c.-217G>T rs1427339813
NM_054012.3(ASS1):c.-233G>C rs886063526
NM_054012.3(ASS1):c.-233G>T rs886063526

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.