ClinVar Miner

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

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

Total variants with conflicting interpretations: 2

HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066

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