ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Child Health and Human Development Program, Research Institute of the McGill University Health Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Child Health and Human Development Program, Research Institute of the McGill University Health Center: Collection method of the submission from Child Health and Human Development Program, Research Institute of the McGill University Health Center:
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 gnomAD frequency
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043

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