ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "association not found"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (association not found) minimum review status: Submission 2 (association not found) method:

Total variants with conflicting interpretations: 1

HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.423-1G>A rs2143002474

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