ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP
CPS1, 1-BP DEL, 1528G
CPS1, 4.2-KB DEL
CPS1, 9-BP DEL
NM_001875.5(CPS1):c.1003C>T (p.Gln335Ter)
NM_001875.5(CPS1):c.1010A>G (p.His337Arg) rs28940283
NM_001875.5(CPS1):c.1110del (p.Phe371fs)
NM_001875.5(CPS1):c.1207del (p.Ala403fs) rs1574566578
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter) rs121912593
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter) rs1574567901
NM_001875.5(CPS1):c.1529del (p.Gly510fs) rs764384490
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596
NM_001875.5(CPS1):c.2375del (p.Met792fs)
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly) rs1015051007
NM_001875.5(CPS1):c.2549G>A (p.Arg850His) rs767694281
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter) rs1233577562
NM_001875.5(CPS1):c.2634del (p.Leu878fs)
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.3031_3033GTG[2] (p.Val1013del) rs727502824
NM_001875.5(CPS1):c.3486_3496del (p.Pro1163fs)
NM_001875.5(CPS1):c.3558+1G>C rs1559129372
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303
NM_001875.5(CPS1):c.3903del (p.Pro1302fs)
NM_001875.5(CPS1):c.3915T>A (p.Tyr1305Ter)
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001875.5(CPS1):c.4075C>T (p.Gln1359Ter)
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)

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