ClinVar Miner

List of variants in gene CPS1 reported as benign for Congenital hyperammonemia, type I

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_001122633.3(CPS1):c.-16+12G>A rs17552879
NM_001875.5(CPS1):c.*314T>A
NM_001875.5(CPS1):c.*346T>C rs715
NM_001875.5(CPS1):c.*380C>G rs10932349
NM_001875.5(CPS1):c.*438T>G rs7684
NM_001875.5(CPS1):c.*658A>G
NM_001875.5(CPS1):c.*692C>G rs12476133
NM_001875.5(CPS1):c.*754T>G rs73078125
NM_001875.5(CPS1):c.*829T>C
NM_001875.5(CPS1):c.-29T>G rs147937942
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544
NM_001875.5(CPS1):c.1165-5T>C rs565003226
NM_001875.5(CPS1):c.1200A>G (p.Lys400=) rs141545954
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425
NM_001875.5(CPS1):c.1359+7G>A rs16844647
NM_001875.5(CPS1):c.1416T>C (p.Asn472=) rs148204462
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173
NM_001875.5(CPS1):c.1708-5G>A rs571670790
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.5(CPS1):c.2193-15G>T rs2287600
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2352A>G (p.Thr784=) rs182565798
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.2830-18A>G rs116664530
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.5(CPS1):c.3404+9_3404+10del rs557000347
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) rs201246466
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3481-8C>T rs41272669
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=) rs199676680
NM_001875.5(CPS1):c.3666+77dup rs61108700
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023
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.4260C>G (p.Leu1420=) rs138395129
NM_001875.5(CPS1):c.4275-10A>G rs41272673
NM_001875.5(CPS1):c.4404+4T>A rs199739254
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.529-4A>T rs191182348
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138
NM_001875.5(CPS1):c.948-6C>T rs112199960

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.