ClinVar Miner

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

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

Total variants with conflicting interpretations: 5

HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_003661.3(APOL1):c.[1024A>G;1152T>G]

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