ClinVar Miner

List of variants in gene CPS1 reported as likely 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: 181
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_001875.5(CPS1):c.1263+5G>C rs1275489342 0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 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.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.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro) rs1319489001 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NC_000002.11:g.(211507390_211512586)_211513223del
NC_000002.11:g.(?_211454820)_(211455640_?)dup
NC_000002.11:g.211436160_211541748del105589
NM_001875.5(CPS1):c.1086+1G>A rs1553511326
NM_001875.5(CPS1):c.1164+1G>A
NM_001875.5(CPS1):c.1165-2A>G rs1305369403
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter) rs961015305
NM_001875.5(CPS1):c.126+1G>A rs1553507183
NM_001875.5(CPS1):c.1264-1G>T
NM_001875.5(CPS1):c.127-2A>G
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg) rs778766382
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter) rs1553511789
NM_001875.5(CPS1):c.1360-1G>C
NM_001875.5(CPS1):c.1363G>T (p.Glu455Ter) rs1698622742
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)
NM_001875.5(CPS1):c.1413dup (p.Asn472fs) rs1553512225
NM_001875.5(CPS1):c.1453del (p.Leu485fs)
NM_001875.5(CPS1):c.1489A>T (p.Lys497Ter) rs1698631663
NM_001875.5(CPS1):c.149T>C (p.Leu50Pro)
NM_001875.5(CPS1):c.1549+1G>A
NM_001875.5(CPS1):c.1550-2A>C rs2105840261
NM_001875.5(CPS1):c.1553_1555delinsA (p.Val518fs)
NM_001875.5(CPS1):c.1569_1570del (p.Gly524fs)
NM_001875.5(CPS1):c.1610C>A (p.Ser537Ter) rs1698686495
NM_001875.5(CPS1):c.1751_1752del (p.Val584fs)
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
NM_001875.5(CPS1):c.1760G>A (p.Arg587His) rs1553512642
NM_001875.5(CPS1):c.1770T>A (p.Tyr590Ter)
NM_001875.5(CPS1):c.1775dup (p.Gly594fs) rs1341782266
NM_001875.5(CPS1):c.1781_1782del (p.Gly594fs)
NM_001875.5(CPS1):c.1790C>A (p.Ser597Ter) rs1698754274
NM_001875.5(CPS1):c.1826_1827del (p.Leu609fs)
NM_001875.5(CPS1):c.1836+2T>C rs1574577755
NM_001875.5(CPS1):c.1855C>T (p.Gln619Ter)
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.1981+1G>C
NM_001875.5(CPS1):c.2017_2018del (p.Ser673fs)
NM_001875.5(CPS1):c.2072T>A (p.Leu691Ter) rs1698930454
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs) rs1553509010
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter) rs1337182136
NM_001875.5(CPS1):c.2144_2145del (p.Val715fs)
NM_001875.5(CPS1):c.2152A>T (p.Arg718Ter) rs1698933356
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2193-1G>A
NM_001875.5(CPS1):c.2193-1G>T rs1553513387
NM_001875.5(CPS1):c.2201T>A (p.Leu734Ter) rs1574586310
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer) rs781088670
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer) rs1699000892
NM_001875.5(CPS1):c.236+1G>T rs1553509023
NM_001875.5(CPS1):c.236+4A>G
NM_001875.5(CPS1):c.2375T>C (p.Met792Thr)
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.2391+1G>A rs1553513433
NM_001875.5(CPS1):c.2391+1G>T rs1553513433
NM_001875.5(CPS1):c.2391+2T>C
NM_001875.5(CPS1):c.2392-1G>T rs755882799
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2419G>T (p.Glu807Ter) rs1699148940
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.2470_2471del (p.Thr824fs)
NM_001875.5(CPS1):c.2533_2534del (p.Glu845fs)
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
NM_001875.5(CPS1):c.2556T>A (p.Tyr852Ter) rs1699157096
NM_001875.5(CPS1):c.2568+1G>A
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
NM_001875.5(CPS1):c.2605_2606insGAAG (p.Lys869fs)
NM_001875.5(CPS1):c.2616C>A (p.Tyr872Ter) rs1699309581
NM_001875.5(CPS1):c.2623A>T (p.Lys875Ter)
NM_001875.5(CPS1):c.2633T>A (p.Leu878Ter) rs1699310308
NM_001875.5(CPS1):c.2713A>T (p.Lys905Ter)
NM_001875.5(CPS1):c.2725G>T (p.Glu909Ter)
NM_001875.5(CPS1):c.2738C>A (p.Ser913Ter) rs754706559
NM_001875.5(CPS1):c.2755A>T (p.Lys919Ter)
NM_001875.5(CPS1):c.2773G>T (p.Glu925Ter) rs1700084097
NM_001875.5(CPS1):c.2779C>T (p.Gln927Ter)
NM_001875.5(CPS1):c.2830-1G>C
NM_001875.5(CPS1):c.2830-1G>T rs1700129715
NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter) rs1028099185
NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)
NM_001875.5(CPS1):c.2895+1G>A
NM_001875.5(CPS1):c.2895+2T>C
NM_001875.5(CPS1):c.2913del (p.Phe971fs)
NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter) rs1700257346
NM_001875.5(CPS1):c.301del (p.Ile101fs) rs1553509303
NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala) rs1574632659
NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter) rs1700264768
NM_001875.5(CPS1):c.3141+1G>A rs1553516660
NM_001875.5(CPS1):c.3141+2T>C rs2105901763
NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter) rs1700428230
NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)
NM_001875.5(CPS1):c.3185del (p.Asn1062fs) rs1553517122
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)
NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)
NM_001875.5(CPS1):c.3336+1G>A rs1700437565
NM_001875.5(CPS1):c.3337-1G>T rs1700452978
NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter) rs779856996
NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs) rs1700454068
NM_001875.5(CPS1):c.3375del (p.Cys1126fs) rs1553517224
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter) rs2105908864
NM_001875.5(CPS1):c.3405-2A>G rs2105910926
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter) rs1700523651
NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)
NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro) rs1574646079
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys) rs146968493
NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)
NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)
NM_001875.5(CPS1):c.3558_3558+1dup rs1553517670
NM_001875.5(CPS1):c.3559-2A>G rs766584384
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter) rs1700715255
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter) rs774692248
NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)
NM_001875.5(CPS1):c.3666+2del
NM_001875.5(CPS1):c.3683_3756+772del
NM_001875.5(CPS1):c.3757-1G>A rs2105922845
NM_001875.5(CPS1):c.3768T>A (p.Cys1256Ter) rs1700881929
NM_001875.5(CPS1):c.3793C>T (p.Pro1265Ser)
NM_001875.5(CPS1):c.381+2T>C rs1574543988
NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)
NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)
NM_001875.5(CPS1):c.3933del (p.Met1312fs)
NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)
NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)
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.4003-1G>C rs1553518720
NM_001875.5(CPS1):c.4003-2A>C
NM_001875.5(CPS1):c.4003-2A>T rs1553518719
NM_001875.5(CPS1):c.4056del (p.Thr1353fs) rs1553518726
NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter) rs1305147387
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del) rs766705843
NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter) rs1701172643
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4161+1G>A
NM_001875.5(CPS1):c.4162-2A>G
NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln) rs1559142152
NM_001875.5(CPS1):c.4404+3A>G
NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)
NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)
NM_001875.5(CPS1):c.528+2T>C rs1574548003
NM_001875.5(CPS1):c.594_595del (p.Asn199fs) rs1553509924
NM_001875.5(CPS1):c.622-2A>G rs2106103778
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)
NM_001875.5(CPS1):c.711+1G>C rs1553510520
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.763G>T (p.Glu255Ter) rs756021170
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
NM_001875.5(CPS1):c.798del (p.Asn267fs) rs1553510944
NM_001875.5(CPS1):c.840+1G>T rs1206168005
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183
NM_001875.5(CPS1):c.947+1G>A rs2106109125

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