ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen and "risk factor" from any submitter

Minimum review status of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen: Collection method of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:
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_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160

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