ClinVar Miner

Variants with conflicting interpretations "benign" and "established risk allele"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (established risk allele) minimum review status: Submission 2 (established risk allele) method:
ClinVar version:

Total variants with conflicting interpretations: 3

HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847

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