ClinVar Miner

List of variants in gene CPS1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_001122633.3(CPS1):c.-16+12G>A rs17552879 0.43006
NM_001875.5(CPS1):c.3405-29A>T rs3213784 0.37981
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_001875.5(CPS1):c.2830-18A>G rs116664530 0.02055
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001875.5(CPS1):c.2391+18T>G rs59741271 0.01764
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_001122633.3(CPS1):c.-34G>A rs111491997 0.01369
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862 0.01287
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001875.5(CPS1):c.1359+7G>A rs16844647 0.00860
NM_001875.5(CPS1):c.-29T>G rs147937942 0.00830
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745 0.00828
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_001875.5(CPS1):c.3481-8C>T rs41272669 0.00424
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_001875.5(CPS1):c.529-4A>T rs191182348 0.00289
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_001875.5(CPS1):c.3558+38C>G rs188757166 0.00160
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173 0.00114
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_001875.5(CPS1):c.381+17C>T rs374364413 0.00076
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.2391+20C>T rs376315320 0.00039
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser) rs142693704 0.00035
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544 0.00029
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293 0.00025
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001875.5(CPS1):c.1550-17_1550-13del rs754222806 0.00016
NM_001875.5(CPS1):c.126+18T>A rs201351777 0.00014
NM_001875.5(CPS1):c.2352A>G (p.Thr784=) rs182565798 0.00014
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_001875.5(CPS1):c.2544C>T (p.Ser848=) rs142818109 0.00006
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841 0.00006
NM_001875.5(CPS1):c.1131C>T (p.His377=) rs372421311 0.00004
NM_001875.5(CPS1):c.1165-5T>C rs565003226 0.00004
NM_001875.5(CPS1):c.1359+19T>C rs759580115 0.00004
NM_001875.5(CPS1):c.236+15T>C rs538300887 0.00004
NM_001875.5(CPS1):c.712-11C>T rs561995236 0.00004
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692 0.00002
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp) rs139818667 0.00002
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
NM_001875.5(CPS1):c.1716T>C (p.Asp572=) rs764231738 0.00001
NM_001875.5(CPS1):c.2454A>G (p.Pro818=) rs765712117 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001875.5(CPS1):c.3666+7A>G rs776903581 0.00001
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=) rs752311782 0.00001
NM_001875.5(CPS1):c.471+14T>C rs914408029 0.00001
GRCh37/hg19 2q34(chr2:211445066-211674837)
NM_001122633.3(CPS1):c.-74_-54dup rs1375135144
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
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.1169T>G (p.Leu390Arg) rs2106116333
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.1878G>T (p.Val626=) rs1057522548
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg) rs1553512974
NM_001875.5(CPS1):c.2002C>T (p.Pro668Ser)
NM_001875.5(CPS1):c.2021A>T (p.Asn674Ile)
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
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.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2829+20C>G rs1057524082
NM_001875.5(CPS1):c.2830-19T>C rs1553516321
NM_001875.5(CPS1):c.2830-19_2830-15del rs768083645
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
NM_001875.5(CPS1):c.3069C>A (p.Asp1023Glu)
NM_001875.5(CPS1):c.3404+9_3404+10del rs557000347
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys) rs146968493
NM_001875.5(CPS1):c.3559-7del rs58225253
NM_001875.5(CPS1):c.3927+4A>G
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.3959A>T (p.Asp1320Val)
NM_001875.5(CPS1):c.4003-12A>G rs534566099
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His) rs1553519513
NM_001875.5(CPS1):c.927C>T (p.Tyr309=) rs1553511083

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