ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Medical Genetics, Medical University Pleven and "likely pathogenic" from any submitter

Minimum review status of the submission from Medical Genetics, Medical University Pleven: Collection method of the submission from Medical Genetics, Medical University Pleven:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_007294.4(BRCA1):c.5333-1G>A rs80358126

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