ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Medical Affairs, Dicerna Pharmaceuticals and "uncertain significance" from any submitter

Minimum review status of the submission from Medical Affairs, Dicerna Pharmaceuticals: Collection method of the submission from Medical Affairs, Dicerna Pharmaceuticals:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) rs766257867 0.00001

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