ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital, Mahidol University and "likely pathogenic" from any submitter

Minimum review status of the submission from Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital, Mahidol University: Collection method of the submission from Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital, Mahidol University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) rs762284875 0.00001

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