ClinVar Miner

List of variants in gene CPS1 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2569-114A>G rs114764732 0.02568
NM_001875.5(CPS1):c.1087-147A>G rs16844641 0.02113
NM_001875.5(CPS1):c.948-241C>T rs76925954 0.02108
NM_001875.5(CPS1):c.2960-166A>G rs114814055 0.02057
NM_001875.5(CPS1):c.3666+66T>C rs114543766 0.01936
NM_001875.5(CPS1):c.1359+120A>C rs71422703 0.01893
NM_001875.5(CPS1):c.711+166A>G rs78980076 0.01559
NM_001875.5(CPS1):c.622-78T>C rs116468978 0.01469
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_001875.5(CPS1):c.3481-25G>A rs141998607 0.01354
NM_001122633.3(CPS1):c.-15-338G>T rs75313076 0.01343
NM_001875.5(CPS1):c.2688-142G>A rs140676345 0.01171
NM_001875.5(CPS1):c.2830-159C>G rs139633215 0.01154
NM_001875.5(CPS1):c.2895+136G>A rs139306038 0.01147
NM_001875.5(CPS1):c.3480+88C>A rs142956618 0.01002
NM_001875.5(CPS1):c.3404+151A>G rs116516331 0.00992
NM_001875.5(CPS1):c.2830-83T>G rs115985844 0.00980
NM_001875.5(CPS1):c.4102-419_4102-418del rs139274534 0.00927
NM_001875.5(CPS1):c.1086+113C>T rs114942404 0.00924
NM_001875.5(CPS1):c.471+241C>T rs114245218 0.00889
NM_001875.5(CPS1):c.947+84T>C rs78693997 0.00816
NM_001875.5(CPS1):c.948-64A>C rs79677229 0.00744
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_001875.5(CPS1):c.381+281A>G rs147908012 0.00516
NM_001875.5(CPS1):c.-128G>A rs182021022 0.00484
NM_001875.5(CPS1):c.712-16T>C rs187304632 0.00456
NM_001875.5(CPS1):c.3481-8C>T rs41272669 0.00424
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425 0.00392
NM_001875.5(CPS1):c.1550-291A>G rs139599445 0.00379
NM_001875.5(CPS1):c.840+42G>C rs149279523 0.00373
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_001875.5(CPS1):c.3928-17T>G rs532757361 0.00233
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255 0.00230
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00154
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173 0.00114
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001875.5(CPS1):c.1416T>C (p.Asn472=) rs148204462 0.00071
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650 0.00058
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073 0.00054
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976 0.00026
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293 0.00025
NM_001875.5(CPS1):c.1200A>G (p.Lys400=) rs141545954 0.00024
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=) rs199676680 0.00011
NM_001875.5(CPS1):c.1632G>A (p.Thr544=) rs755530984 0.00005
NM_001875.5(CPS1):c.4404+5A>T rs375785288 0.00004
NM_001875.5(CPS1):c.2205A>G (p.Ala735=) rs749436827 0.00001
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=) rs766909251 0.00001
NM_001875.5(CPS1):c.3666+7A>G rs776903581 0.00001
NM_001875.5(CPS1):c.726G>A (p.Val242=) rs765377334 0.00001
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2358C>T (p.Ser786=) rs1699003909
NM_001875.5(CPS1):c.2392-135_2392-133dup rs3060429
NM_001875.5(CPS1):c.2959+8_2959+14del rs765645129
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3405-97C>T rs62203740
NM_001875.5(CPS1):c.382-134del rs55986465
NM_001875.5(CPS1):c.3927+149T>C rs113202402
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001875.5(CPS1):c.4003-109TG[18] rs3217217
NM_001875.5(CPS1):c.4003-109TG[6]
NM_001875.5(CPS1):c.4102-404dup rs771522432
NM_001875.5(CPS1):c.4102-418C>A rs7575474
NM_001875.5(CPS1):c.4102-420dup rs66758310
NM_001875.5(CPS1):c.4161+298A>T rs62203749
NM_001875.5(CPS1):c.528+40GT[11] rs35833900

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.