ClinVar Miner

List of variants in gene OTC reported as likely benign for Ornithine carbamoyltransferase deficiency

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Total variants: 8
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HGVS dbSNP
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328

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