ClinVar Miner

List of variants reported as benign for Citrullinemia type I by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.-5-172T>C rs1760275 0.97728
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_054012.4(ASS1):c.597+18A>G rs652313 0.78321
NM_054012.4(ASS1):c.566+88C>T rs493389 0.60716
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.57262
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10382
NM_054012.4(ASS1):c.495+84A>C rs11243414

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.