ClinVar Miner

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

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

Total variants with conflicting interpretations: 5

HGVS dbSNP gnomAD frequency
NM_000636.4(SOD2):c.47T>C (p.Val16Ala) rs4880 0.47242
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847

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