ClinVar Miner

Variants with conflicting interpretations "pathogenic" 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_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg) rs1576935161
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932

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