ClinVar Miner

List of variants in gene CPS1

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Gene type:
ClinVar version:
Total variants: 279
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HGVS dbSNP
CPS1, 1-BP DEL, 1528G
CPS1, 4.2-KB DEL
CPS1, 9-BP DEL
GRCh37/hg19 2q34(chr2:211445066-211674837)x3
NM_001122633.2(CPS1):c.-36_-35ins21 rs1375135144
NM_001122633.3(CPS1):c.-16+12G>A rs17552879
NM_001122633.3(CPS1):c.-17T>G rs763703546
NM_001122633.3(CPS1):c.-34G>A rs111491997
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.*1040C>T rs886055562
NM_001875.5(CPS1):c.*1068G>T rs886055563
NM_001875.5(CPS1):c.*1117A>G rs886055564
NM_001875.5(CPS1):c.*187C>T rs543723956
NM_001875.5(CPS1):c.*235A>T rs6728169
NM_001875.5(CPS1):c.*311A>G rs886055558
NM_001875.5(CPS1):c.*346T>C rs715
NM_001875.5(CPS1):c.*380C>G rs10932349
NM_001875.5(CPS1):c.*387C>T rs886055559
NM_001875.5(CPS1):c.*438T>G rs7684
NM_001875.5(CPS1):c.*5G>A rs886055556
NM_001875.5(CPS1):c.*692C>G rs12476133
NM_001875.5(CPS1):c.*739T>G rs886055560
NM_001875.5(CPS1):c.*74T>C rs886055557
NM_001875.5(CPS1):c.*754T>G rs73078125
NM_001875.5(CPS1):c.*777A>G rs886055561
NM_001875.5(CPS1):c.*849A>G rs150782174
NM_001875.5(CPS1):c.*946C>T rs139770263
NM_001875.5(CPS1):c.*976C>T rs763063376
NM_001875.5(CPS1):c.-128G>A rs182021022
NM_001875.5(CPS1):c.-29T>G rs147937942
NM_001875.5(CPS1):c.-3delinsTTCC rs1553507151
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.-76A>G rs372753413
NM_001875.5(CPS1):c.1010A>G (p.His337Arg) rs28940283
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013
NM_001875.5(CPS1):c.1025_1027ACA[1] (p.Asn343del) rs1553511264
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.104G>A (p.Gly35Asp)
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp) rs1472190012
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862
NM_001875.5(CPS1):c.1086+1G>A rs1553511326
NM_001875.5(CPS1):c.1087-1G>T rs1064794258
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.1145C>T (p.Pro382Leu) rs201407486
NM_001875.5(CPS1):c.1165-5T>C rs565003226
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter) rs961015305
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
NM_001875.5(CPS1):c.126+18T>A rs201351777
NM_001875.5(CPS1):c.126+1G>A rs1553507183
NM_001875.5(CPS1):c.1263+5G>C rs1275489342
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.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter) rs121912593
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr) rs772497399
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter) rs1553511789
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr) rs1553511794
NM_001875.5(CPS1):c.1359+19T>C rs759580115
NM_001875.5(CPS1):c.1359+7G>A rs16844647
NM_001875.5(CPS1):c.1413dup (p.Asn472fs) rs1553512225
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)
NM_001875.5(CPS1):c.1529del (p.Gly510fs) rs764384490
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.1571G>T (p.Gly524Val) rs397514748
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu)
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile)
NM_001875.5(CPS1):c.1716T>C (p.Asp572=) rs764231738
NM_001875.5(CPS1):c.1760G>A (p.Arg587His) rs1553512642
NM_001875.5(CPS1):c.1775dup (p.Gly594fs) rs1341782266
NM_001875.5(CPS1):c.1836+2T>C
NM_001875.5(CPS1):c.1837-8A>G rs1290474919
NM_001875.5(CPS1):c.1864G>A (p.Val622Met) rs1553512962
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556
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.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.1913G>C (p.Arg638Pro) rs757205958
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.5(CPS1):c.1981+116T>C
NM_001875.5(CPS1):c.1982-1G>C rs1559102636
NM_001875.5(CPS1):c.1982-8A>T rs563304664
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs) rs1553509010
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2192+6A>T rs201058019
NM_001875.5(CPS1):c.2193-15G>T rs2287600
NM_001875.5(CPS1):c.2193-1G>T rs1553513387
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer) rs781088670
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.2339G>A (p.Arg780His) rs758724746
NM_001875.5(CPS1):c.2352A>G (p.Thr784=) rs182565798
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596
NM_001875.5(CPS1):c.236+15T>C rs538300887
NM_001875.5(CPS1):c.236+1G>T rs1553509023
NM_001875.5(CPS1):c.236+265G>A
NM_001875.5(CPS1):c.236+5G>A rs1553509024
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.2391+18T>G rs59741271
NM_001875.5(CPS1):c.2391+1G>A rs1553513433
NM_001875.5(CPS1):c.2391+20C>T rs376315320
NM_001875.5(CPS1):c.2392-1G>T rs755882799
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser) rs201716417
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu) rs1553513861
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg) rs1553513864
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln) rs200731808
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg) rs1553513870
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.2537C>T (p.Pro846Leu) rs1486364626
NM_001875.5(CPS1):c.2544C>T (p.Ser848=) rs142818109
NM_001875.5(CPS1):c.2549G>A (p.Arg850His)
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn)
NM_001875.5(CPS1):c.2579_2581ACA[1] (p.Asn861del) rs763006780
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter)
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser) rs1553509297
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
NM_001875.5(CPS1):c.2644C>T (p.Arg882Cys) rs148519116
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu) rs1388955593
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu) rs754706559
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val) rs886055552
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614
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.2845G>A (p.Ala949Thr) rs537170841
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser) rs757059355
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr) rs1553516442
NM_001875.5(CPS1):c.2959+1del rs1559121934
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr) rs140999077
NM_001875.5(CPS1):c.2960-166A>G
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.301del (p.Ile101fs) rs1553509303
NM_001875.5(CPS1):c.3031_3033GTG[2] (p.Val1013del) rs727502824
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255
NM_001875.5(CPS1):c.303T>G (p.Ile101Met) rs1559084624
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser) rs749238466
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu) rs1559123272
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3141+1G>A rs1553516660
NM_001875.5(CPS1):c.3185del (p.Asn1062fs) rs1553517122
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu) rs770471782
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.5(CPS1):c.3375del (p.Cys1126fs) rs1553517224
NM_001875.5(CPS1):c.3404+9_3404+10del rs557000347
NM_001875.5(CPS1):c.3405-29A>T rs3213784
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys) rs1553517387
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631
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+1G>C rs1559129372
NM_001875.5(CPS1):c.3558+38C>G rs188757166
NM_001875.5(CPS1):c.3558+7G>A rs764456030
NM_001875.5(CPS1):c.3558_3558+1dup rs1553517670
NM_001875.5(CPS1):c.3559-2A>G rs766584384
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.5(CPS1):c.3666+7A>G rs776903581
NM_001875.5(CPS1):c.3667-160A>G
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn)
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=) rs760598756
NM_001875.5(CPS1):c.3756+45C>T rs6435580
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270
NM_001875.5(CPS1):c.381+17C>T rs374364413
NM_001875.5(CPS1):c.381+2T>C
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val) rs886055554
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr) rs886055555
NM_001875.5(CPS1):c.3928-16T>C rs1057522781
NM_001875.5(CPS1):c.3928-17T>G
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val) rs769593170
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001875.5(CPS1):c.3G>T (p.Met1Ile) rs1553507155
NM_001875.5(CPS1):c.4002+2T>A rs1553518395
NM_001875.5(CPS1):c.4002+80T>C
NM_001875.5(CPS1):c.4003-12A>G rs534566099
NM_001875.5(CPS1):c.4003-1G>C rs1553518720
NM_001875.5(CPS1):c.4003-2A>T rs1553518719
NM_001875.5(CPS1):c.4056del (p.Thr1353fs) rs1553518726
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=) rs1425920194
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4102-324C>T
NM_001875.5(CPS1):c.4102-355T>C
NM_001875.5(CPS1):c.4102-476G>A
NM_001875.5(CPS1):c.4102-559G>C rs529803364
NM_001875.5(CPS1):c.4102-561T>C rs550848657
NM_001875.5(CPS1):c.4102-563G>A rs207462825
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
NM_001875.5(CPS1):c.4196A>C (p.Asn1399Thr) rs121912594
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129
NM_001875.5(CPS1):c.4274+299T>G
NM_001875.5(CPS1):c.4274+2T>C rs1374322297
NM_001875.5(CPS1):c.4275-10A>G rs41272673
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=) rs752311782
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn) rs1559142189
NM_001875.5(CPS1):c.4404+4T>A rs199739254
NM_001875.5(CPS1):c.4404+5A>T
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His) rs1553519513
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955
NM_001875.5(CPS1):c.471+14T>C rs914408029
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter) rs200214298
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.528+2T>C
NM_001875.5(CPS1):c.528+9A>G rs369476447
NM_001875.5(CPS1):c.528G>A (p.Lys176=) rs1559086441
NM_001875.5(CPS1):c.529-4A>T rs191182348
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)
NM_001875.5(CPS1):c.594_595del (p.Asn199fs) rs1553509924
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086
NM_001875.5(CPS1):c.622-3C>T
NM_001875.5(CPS1):c.622-78T>C
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306
NM_001875.5(CPS1):c.711+1G>C rs1553510520
NM_001875.5(CPS1):c.712-11C>T rs561995236
NM_001875.5(CPS1):c.712-16T>C rs187304632
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter) rs761225695
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) rs778346264
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter) rs756021170
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138
NM_001875.5(CPS1):c.798del (p.Asn267fs) rs1553510944
NM_001875.5(CPS1):c.840_840+5dup rs1273243029
NM_001875.5(CPS1):c.841-182T>C
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068
NM_001875.5(CPS1):c.927C>T (p.Tyr309=) rs1553511083
NM_001875.5(CPS1):c.937A>G (p.Met313Val) rs587780323
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys) rs761974037
NM_001875.5(CPS1):c.948-6C>T rs112199960

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