ClinVar Miner

List of variants reported as likely pathogenic for Ornithine carbamoyltransferase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.140_141insG (p.Asn47fs) rs72554314
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs) rs72554355
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.443T>C (p.Leu148Ser) rs67016166
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.844del (p.Gln282fs) rs2068530290
NM_000531.6(OTC):c.860_861dup (p.Met288fs) rs2068530385
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470

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