ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 70
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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.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

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