ClinVar Miner

List of variants reported as likely pathogenic for Congenital hyperammonemia, type I

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Total variants: 43
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HGVS dbSNP
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.1263+5G>C rs1275489342
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter) rs1553511789
NM_001875.5(CPS1):c.1413dup (p.Asn472fs) rs1553512225
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.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.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.2391+1G>A rs1553513433
NM_001875.5(CPS1):c.2392-1G>T rs755882799
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg) rs1553513864
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341
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.3558_3558+1dup rs1553517670
NM_001875.5(CPS1):c.3559-2A>G rs766584384
NM_001875.5(CPS1):c.381+2T>C
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.4274+2T>C rs1374322297
NM_001875.5(CPS1):c.528+2T>C
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.731del (p.His243_Leu244insTer) rs778346264
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter) rs756021170
NM_001875.5(CPS1):c.798del (p.Asn267fs) rs1553510944

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