ClinVar Miner

List of variants in gene CPS1 reported as uncertain significance for Congenital hyperammonemia, type I

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Total variants: 117
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HGVS dbSNP
NM_001122633.3(CPS1):c.-17T>G rs763703546
NM_001875.4(CPS1):c.2959+1delG rs1559121934
NM_001875.4(CPS1):c.3141+15delA rs577707531
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.*387C>T rs886055559
NM_001875.5(CPS1):c.*5G>A rs886055556
NM_001875.5(CPS1):c.*739T>G rs886055560
NM_001875.5(CPS1):c.*74T>C rs886055557
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.-76A>G rs372753413
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.104G>A (p.Gly35Asp)
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp) rs1472190012
NM_001875.5(CPS1):c.1087-7C>T rs202117044
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr) rs772497399
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr) rs1553511794
NM_001875.5(CPS1):c.1359+7G>A rs16844647
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
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.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.1895T>G (p.Ile632Arg) rs1553512974
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.5(CPS1):c.1982-1G>C rs1559102636
NM_001875.5(CPS1):c.1982-8A>T rs563304664
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.2192+6A>T rs201058019
NM_001875.5(CPS1):c.236+5G>A rs1553509024
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.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.2537C>T (p.Pro846Leu) rs1486364626
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.259C>T (p.Pro87Ser) rs1553509297
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.2845G>A (p.Ala949Thr) rs537170841
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>T (p.Gly982Val) rs121912595
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr) rs1553516442
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.2993C>T (p.Ser998Phe) rs1404696893
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.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.3194C>A (p.Ala1065Glu) rs770471782
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810
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.3558+7G>A rs764456030
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270
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.3952T>G (p.Leu1318Val) rs769593170
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
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+2T>C rs1374322297
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn) rs1559142189
NM_001875.5(CPS1):c.4404+4T>A rs199739254
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.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.528+9A>G rs369476447
NM_001875.5(CPS1):c.528G>A (p.Lys176=) rs1559086441
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086
NM_001875.5(CPS1):c.622-3C>T
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.713G>A (p.Arg238Gln)
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138
NM_001875.5(CPS1):c.840_840+5dup rs1273243029
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068
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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