ClinVar Miner

Variants with conflicting interpretations "benign" and "pathogenic, low penetrance"

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

Total variants with conflicting interpretations: 3

HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269

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