ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Centre for Genomic and Experimental Medicine, University of Edinburgh and "likely pathogenic" from any submitter

Minimum review status of the submission from Centre for Genomic and Experimental Medicine, University of Edinburgh: Collection method of the submission from Centre for Genomic and Experimental Medicine, University of Edinburgh:
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_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764

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