ClinVar Miner

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

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

Total variants with conflicting interpretations: 6

HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00001

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