ClinVar Miner

Variants in gene CPS1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
Download table as spreadsheet
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) rs201246466
NM_001875.5(CPS1):c.3481-8C>T rs41272669
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.529-4A>T rs191182348

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.