ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital:
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_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)

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