ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre and "uncertain significance" from any submitter

Minimum review status of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre: Collection method of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre:
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_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_014236.4(GNPAT):c.569-3T>G rs745869264

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