ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genomic Medicine Lab, University of California San Francisco and "uncertain significance" from any submitter

Minimum review status of the submission from Genomic Medicine Lab, University of California San Francisco: Collection method of the submission from Genomic Medicine Lab, University of California San Francisco:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938

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