ClinVar Miner

List of variants in gene CPS1 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
CPS1, 1-BP DEL, 1528G
CPS1, 4.2-KB DEL
NM_001875.4(CPS1):c.4196A>C (p.Asn1399Thr) rs121912594
NM_001875.5(CPS1):c.1010A>G (p.His337Arg) rs28940283
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter) rs121912593
NM_001875.5(CPS1):c.1571G>T (p.Gly524Val) rs397514748
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.3031_3033GTG[2] (p.Val1013del) rs727502824
NM_001875.5(CPS1):c.3558+1G>C rs1559129372
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4196A>C (p.Asn1399Thr) rs121912594

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.