ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, Heidelberg University and "pathogenic" from OMIM

Minimum review status of the submission from Institute of Human Genetics, Heidelberg University: Collection method of the submission from Institute of Human Genetics, Heidelberg University:
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_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570

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