ClinVar Miner

Variants with conflicting interpretations "risk factor" and "association"

Submission 1 (risk factor) minimum review status: Submission 1 (risk factor) method:
Submission 2 (association) minimum review status: Submission 2 (association) method:
ClinVar version:

Total variants with conflicting interpretations: 8

HGVS dbSNP gnomAD frequency
NM_000777.5(CYP3A5):c.219-237A>G rs776746 0.72319
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NC_000015.10:g.58431740G>A rs2070895 0.33491
NM_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116

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