ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP
NM_001875.5(CPS1):c.*380C>G rs10932349
NM_001875.5(CPS1):c.*754T>G rs73078125
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=) rs760598756
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=) rs1425920194
NM_001875.5(CPS1):c.4102-559G>C rs529803364
NM_001875.5(CPS1):c.4102-561T>C rs550848657
NM_001875.5(CPS1):c.4102-563G>A rs207462825
NM_001875.5(CPS1):c.4275-10A>G rs41272673
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023

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