ClinVar Miner

List of variants in gene OTC reported by Ambry Genetics

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Total variants: 10
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NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.270T>C (p.Ser90=) rs72554342
NM_000531.6(OTC):c.272C>T (p.Thr91Ile) rs372906667
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402
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
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554
NM_000531.6(OTC):c.953_955CTC[1] (p.Pro319del) rs1555976710

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