ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "uncertain significance" from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum review status of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital:
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_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321

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