ClinVar Miner

List of variants in gene CPS1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_001122633.2(CPS1):c.-36_-35ins21 rs1375135144
NM_001122633.3(CPS1):c.-16+12G>A rs17552879
NM_001122633.3(CPS1):c.-34G>A rs111491997
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
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.1030_1032delinsTCT (p.Thr344Ser) rs386654705
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.1087-7C>T rs202117044
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544
NM_001875.5(CPS1):c.1131C>T (p.His377=) rs372421311
NM_001875.5(CPS1):c.1165-5T>C rs565003226
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425
NM_001875.5(CPS1):c.126+18T>A rs201351777
NM_001875.5(CPS1):c.1263+8TG[4] rs1553511697
NM_001875.5(CPS1):c.127-13A>C rs1553508991
NM_001875.5(CPS1):c.127-20del rs1064794481
NM_001875.5(CPS1):c.1359+19T>C rs759580115
NM_001875.5(CPS1):c.1359+7G>A rs16844647
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173
NM_001875.5(CPS1):c.1550-17_1550-13del rs754222806
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976
NM_001875.5(CPS1):c.1716T>C (p.Asp572=) rs764231738
NM_001875.5(CPS1):c.1878G>T (p.Val626=) rs1057522548
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2192+6A>T rs201058019
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.236+15T>C rs538300887
NM_001875.5(CPS1):c.2391+18T>G rs59741271
NM_001875.5(CPS1):c.2391+20C>T rs376315320
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.2454A>G (p.Pro818=) rs765712117
NM_001875.5(CPS1):c.2544C>T (p.Ser848=) rs142818109
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.2829+20C>G rs1057524082
NM_001875.5(CPS1):c.2830-18A>G rs116664530
NM_001875.5(CPS1):c.2830-19T>C rs1553516321
NM_001875.5(CPS1):c.2830-19_2830-15del rs768083645
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728
NM_001875.5(CPS1):c.3141+15del rs577707531
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.3405-29A>T rs3213784
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.3558+38C>G rs188757166
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_001875.5(CPS1):c.3666+7A>G rs776903581
NM_001875.5(CPS1):c.3756+45C>T rs6435580
NM_001875.5(CPS1):c.381+17C>T rs374364413
NM_001875.5(CPS1):c.3928-16T>C rs1057522781
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001875.5(CPS1):c.4003-12A>G rs534566099
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.4300C>T (p.Leu1434=) rs752311782
NM_001875.5(CPS1):c.4404+4T>A rs199739254
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001875.5(CPS1):c.471+14T>C rs914408029
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.528+9A>G rs369476447
NM_001875.5(CPS1):c.529-4A>T rs191182348
NM_001875.5(CPS1):c.712-11C>T rs561995236
NM_001875.5(CPS1):c.712-16T>C rs187304632
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138
NM_001875.5(CPS1):c.927C>T (p.Tyr309=) rs1553511083
NM_001875.5(CPS1):c.948-6C>T rs112199960

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