ClinVar Miner

List of variants reported as likely benign for Citrullinemia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468 0.00023
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096 0.00020
NM_014251.3(SLC25A13):c.1751-4_1751-3insT rs765170811 0.00006
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=) rs765358773 0.00005
NM_014251.3(SLC25A13):c.306T>C (p.Ala102=) rs565008080

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.