ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GenMed Metabolism Lab and "likely pathogenic" from any submitter

Minimum review status of the submission from GenMed Metabolism Lab: Collection method of the submission from GenMed Metabolism Lab:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478

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