ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Krakow/Cohn Lab, University of California, Los Angeles and "likely pathogenic" from any submitter

Minimum review status of the submission from Krakow/Cohn Lab, University of California, Los Angeles: Collection method of the submission from Krakow/Cohn Lab, University of California, Los Angeles:
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_000346.4(SOX9):c.1177C>T (p.Gln393Ter) rs1598176852
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter) rs1057518216
NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter) rs1341243329
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) rs1324081394

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