ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Human Genetics, Universidade de São Paulo and "likely benign" from any submitter

Minimum review status of the submission from Laboratory of Human Genetics, Universidade de São Paulo: Collection method of the submission from Laboratory of Human Genetics, Universidade de São Paulo:
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_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964

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