ClinVar Miner

List of variants reported for Congenital hyperammonemia, type I by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.4102-561T>C rs550848657 0.00220
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
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.1201G>C (p.Gly401Arg) rs760895692 0.00002
NM_001875.5(CPS1):c.1263+5G>C rs1275489342 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser) rs1553509297 0.00001
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu) rs1388955593 0.00001
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu) rs754706559 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.2810T>A (p.Ile937Asn) rs760714614 0.00001
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser) rs757059355 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr) rs1553516442 0.00001
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser) rs749238466 0.00001
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu) rs770471782 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270 0.00001
NM_001875.5(CPS1):c.4102-563G>A rs207462825 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068 0.00001
NM_001122633.3(CPS1):c.-17T>G rs763703546
NM_001875.5(CPS1):c.-3delinsTTCC rs1553507151
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del) rs1553511264
NM_001875.5(CPS1):c.1086+1G>A rs1553511326
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter) rs961015305
NM_001875.5(CPS1):c.126+1G>A rs1553507183
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr) 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.1413dup (p.Asn472fs) rs1553512225
NM_001875.5(CPS1):c.1529del (p.Gly510fs) rs764384490
NM_001875.5(CPS1):c.1760G>A (p.Arg587His) rs1553512642
NM_001875.5(CPS1):c.1775dup (p.Gly594fs) rs1341782266
NM_001875.5(CPS1):c.1864G>A (p.Val622Met) rs1553512962
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg) rs1553512974
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2193-1G>T rs1553513387
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer) rs781088670
NM_001875.5(CPS1):c.236+1G>T rs1553509023
NM_001875.5(CPS1):c.2391+1G>A rs1553513433
NM_001875.5(CPS1):c.2392-1G>T rs755882799
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.2429A>G (p.Gln810Arg) rs1553513864
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
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.2579ACA[1] (p.Asn861del) rs763006780
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.301del (p.Ile101fs) rs1553509303
NM_001875.5(CPS1):c.3141+1G>A rs1553516660
NM_001875.5(CPS1):c.3185del (p.Asn1062fs) rs1553517122
NM_001875.5(CPS1):c.3375del (p.Cys1126fs) rs1553517224
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys) rs1553517387
NM_001875.5(CPS1):c.3558_3558+1dup rs1553517670
NM_001875.5(CPS1):c.3559-2A>G rs766584384
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val) rs769593170
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>T rs1553518719
NM_001875.5(CPS1):c.4056del (p.Thr1353fs) rs1553518726
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4102-559G>C rs529803364
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.4501T>G (p.Ter1501Glu) rs762494955
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.594_595del (p.Asn199fs) rs1553509924
NM_001875.5(CPS1):c.711+1G>C rs1553510520
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter) rs761225695
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter) rs756021170
NM_001875.5(CPS1):c.798del (p.Asn267fs) rs1553510944
NM_001875.5(CPS1):c.840_840+5dup rs1273243029

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.