ClinVar Miner

List of variants in gene CPS1 reported by PreventionGenetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_001875.4(CPS1):c.3928-8delT rs397703682
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.2193-15G>T rs2287600
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.2830-18A>G rs116664530
NM_001875.5(CPS1):c.3405-29A>T rs3213784
NM_001875.5(CPS1):c.3481-8C>T rs41272669
NM_001875.5(CPS1):c.3558+38C>G rs188757166
NM_001875.5(CPS1):c.3756+45C>T rs6435580
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891
NM_001875.5(CPS1):c.4275-10A>G rs41272673
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023

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.