ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Fundacion Hipercolesterolemia Familiar and "pathogenic" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum review status of the submission from Fundacion Hipercolesterolemia Familiar: Collection method of the submission from Fundacion Hipercolesterolemia Familiar:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917

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