ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Pediatrics, Gifu University and "pathogenic" from Yale Center for Mendelian Genomics, Yale University

Minimum review status of the submission from Department of Pediatrics, Gifu University: Collection method of the submission from Department of Pediatrics, Gifu 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_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001

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