ClinVar Miner

Variants in gene OTC with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
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+5G>C rs72554348
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452

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