ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Care4Rare-SOLVE, CHEO and "pathogenic" from any submitter

Minimum review status of the submission from Care4Rare-SOLVE, CHEO: Collection method of the submission from Care4Rare-SOLVE, CHEO:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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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_006013.5(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579

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