ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, University of Goettingen and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Goettingen: Collection method of the submission from Institute of Human Genetics, University of Goettingen:
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_000057.4(BLM):c.2193+1G>A rs865866188
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn) rs2143967167

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