ClinVar Miner

List of variants in gene OTC reported as uncertain significance by Invitae

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Total variants: 10
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NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.307C>T (p.Leu103Phe)
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452

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