ClinVar Miner

Variants with conflicting interpretations "pathogenic, low penetrance" and "risk factor"

Submission 1 (pathogenic, low penetrance) minimum review status: Submission 1 (pathogenic, low penetrance) method:
Submission 2 (risk factor) minimum review status: Submission 2 (risk factor) method:
ClinVar version:

Total variants with conflicting interpretations: 2

HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269

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