ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Fundacion Hipercolesterolemia Familiar and "likely pathogenic" from Iberoamerican FH Network

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: 1
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00003

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