ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Care4Rare-SOLVE, CHEO and "likely 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: 3
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HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_000900.5(MGP):c.56G>T (p.Cys19Phe) rs1555094473
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579

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