ClinVar Miner

List of variants in gene CPS1 reported as pathogenic for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714 0.00001
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter) rs1251623714 0.00001
NM_001875.5(CPS1):c.2339G>A (p.Arg780His) rs758724746 0.00001
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596 0.00001
NM_001875.5(CPS1):c.2549G>A (p.Arg850His) rs767694281 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp) rs933813349 0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306 0.00001
NC_000002.11:g.(?_211421433)_(211421593_?)del
NC_000002.11:g.(?_211421433)_(211473293_?)del
NC_000002.11:g.(?_211441050)_(211542729_?)del
NC_000002.11:g.(?_211456088)_(211479828_?)dup
NC_000002.11:g.(?_211469816)_(211477027_?)del
NC_000002.11:g.(?_211507198)_(211515172_?)del
NC_000002.11:g.(?_211512577)_(211513274_?)del
NC_000002.12:g.210577425_210577431del rs2106081592
NG_008285.1:g.(115464_117421)_(119286_120194)del
NM_001875.5(CPS1):c.1003C>T (p.Gln335Ter) rs1698314043
NM_001875.5(CPS1):c.1010A>G (p.His337Arg) rs28940283
NM_001875.5(CPS1):c.1110del (p.Phe371fs) rs1698355880
NM_001875.5(CPS1):c.1112del (p.Phe371fs) rs2106113137
NM_001875.5(CPS1):c.1141_1149del (p.Thr381_Gly383del) rs1698357897
NM_001875.5(CPS1):c.1164+2T>C rs2106113312
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter) rs961015305
NM_001875.5(CPS1):c.1197del (p.Gly401fs)
NM_001875.5(CPS1):c.1198_1201del (p.Lys400fs)
NM_001875.5(CPS1):c.1207del (p.Ala403fs) rs1574566578
NM_001875.5(CPS1):c.1221_1222del (p.Val409fs)
NM_001875.5(CPS1):c.125del (p.Lys42fs)
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter) rs121912593
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter) rs1553511789
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter) rs1574567901
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly) rs371350538
NM_001875.5(CPS1):c.1376del (p.Thr459fs)
NM_001875.5(CPS1):c.1424del (p.Gly475fs) rs1375157321
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter) rs2106126181
NM_001875.5(CPS1):c.1468C>T (p.Gln490Ter) rs777614848
NM_001875.5(CPS1):c.1509del (p.Gly503_Leu504insTer) rs2106126478
NM_001875.5(CPS1):c.1529del (p.Gly510fs) rs764384490
NM_001875.5(CPS1):c.1549+1G>T rs774484322
NM_001875.5(CPS1):c.1596del (p.Val533fs)
NM_001875.5(CPS1):c.1760G>A (p.Arg587His) rs1553512642
NM_001875.5(CPS1):c.1770T>G (p.Tyr590Ter) rs1245368879
NM_001875.5(CPS1):c.1775dup (p.Gly594fs) rs1341782266
NM_001875.5(CPS1):c.1891G>T (p.Glu631Ter)
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.1930del (p.Cys644fs)
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)
NM_001875.5(CPS1):c.1944dup (p.Asn649Ter)
NM_001875.5(CPS1):c.1970del (p.Gly657fs)
NM_001875.5(CPS1):c.2051C>G (p.Ser684Ter) rs1698929326
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter) rs1337182136
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2171_2175del (p.Ala724fs) rs2105850258
NM_001875.5(CPS1):c.2375del (p.Met792fs) rs1699004800
NM_001875.5(CPS1):c.2403dup (p.Gly802fs) rs2105858978
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2408dup (p.Thr804fs) rs2105859007
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.2446del (p.Cys816fs) rs2105859077
NM_001875.5(CPS1):c.2470_2482del (p.Thr824fs) rs2105859138
NM_001875.5(CPS1):c.2477del (p.Arg826fs)
NM_001875.5(CPS1):c.2493del (p.Glu832fs)
NM_001875.5(CPS1):c.2498G>A (p.Trp833Ter)
NM_001875.5(CPS1):c.2499G>A (p.Trp833Ter)
NM_001875.5(CPS1):c.2525del (p.Glu842fs)
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly) rs1015051007
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter) rs1233577562
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
NM_001875.5(CPS1):c.2634del (p.Leu878fs) rs1699310540
NM_001875.5(CPS1):c.2720del (p.Ala907fs)
NM_001875.5(CPS1):c.2747del (p.Gln916fs)
NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer) rs1179151808
NM_001875.5(CPS1):c.2819G>A (p.Trp940Ter) rs1446095060
NM_001875.5(CPS1):c.2820G>A (p.Trp940Ter)
NM_001875.5(CPS1):c.2876_2877del (p.Tyr959fs) rs1296603906
NM_001875.5(CPS1):c.2920del (p.His974fs)
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del) rs727502824
NM_001875.5(CPS1):c.3067dup (p.Asp1023fs)
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3132C>G (p.Tyr1044Ter)
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)
NM_001875.5(CPS1):c.3216del (p.Val1073fs) rs2105907969
NM_001875.5(CPS1):c.3241del (p.Leu1081fs)
NM_001875.5(CPS1):c.3266G>T (p.Arg1089Leu) rs1280211937
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)
NM_001875.5(CPS1):c.3304dup (p.Ala1102fs)
NM_001875.5(CPS1):c.3307C>T (p.Gln1103Ter) rs1327048960
NM_001875.5(CPS1):c.3336+2T>A
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs) rs1700454068
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter) rs2105908864
NM_001875.5(CPS1):c.3399_3402del (p.Leu1134fs)
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter) rs1700523651
NM_001875.5(CPS1):c.345_351del (p.Gly116fs) rs2106079710
NM_001875.5(CPS1):c.3478C>T (p.Gln1160Ter)
NM_001875.5(CPS1):c.3486_3496del (p.Pro1163fs) rs1700635072
NM_001875.5(CPS1):c.3506TTG[1] (p.Val1170del)
NM_001875.5(CPS1):c.3520C>T (p.Arg1174Ter) rs756337473
NM_001875.5(CPS1):c.3558+1G>C rs1559129372
NM_001875.5(CPS1):c.3666+1G>T rs761271604
NM_001875.5(CPS1):c.3682del (p.Arg1228fs) rs2105920599
NM_001875.5(CPS1):c.3695del (p.Lys1232fs)
NM_001875.5(CPS1):c.3763G>T (p.Glu1255Ter) rs2105922857
NM_001875.5(CPS1):c.3869del (p.Glu1290fs)
NM_001875.5(CPS1):c.3903del (p.Pro1302fs) rs1264586092
NM_001875.5(CPS1):c.3910_3913del (p.Asp1304fs)
NM_001875.5(CPS1):c.3915T>A (p.Tyr1305Ter) rs1700887978
NM_001875.5(CPS1):c.3935dup (p.Met1312fs) rs2105926082
NM_001875.5(CPS1):c.3953T>A (p.Leu1318Ter) rs1700979727
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001875.5(CPS1):c.4075C>T (p.Gln1359Ter) rs1701171267
NM_001875.5(CPS1):c.4088dup (p.Ile1364fs)
NM_001875.5(CPS1):c.4101+1G>T
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4140_4143dup (p.His1382fs)
NM_001875.5(CPS1):c.4159A>T (p.Lys1387Ter) rs2105942900
NM_001875.5(CPS1):c.4190G>A (p.Trp1397Ter)
NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter) rs1172971002
NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter) rs772576138
NM_001875.5(CPS1):c.4246C>T (p.Gln1416Ter)
NM_001875.5(CPS1):c.4275-2A>C rs2105945930
NM_001875.5(CPS1):c.4404+3A>G
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter) rs200214298
NM_001875.5(CPS1):c.594_595del (p.Asn199fs) rs1553509924
NM_001875.5(CPS1):c.651del (p.Thr218fs)
NM_001875.5(CPS1):c.681del (p.Asn229fs)
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter) rs761225695
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) rs778346264
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183
NM_001875.5(CPS1):c.866del (p.Pro289fs)
NM_001875.5(CPS1):c.869dup (p.Leu290fs)
NM_001875.5(CPS1):c.927C>G (p.Tyr309Ter)
NM_001875.5(CPS1):c.946A>T (p.Arg316Ter)
NM_001875.5(CPS1):c.952C>T (p.Gln318Ter)
NM_001875.5(CPS1):c.958C>T (p.Gln320Ter)
NM_001875.5(CPS1):c.982A>T (p.Lys328Ter)

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