ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Yale Center for Mendelian Genomics, Yale University and "benign" from any submitter

Minimum review status of the submission from Yale Center for Mendelian Genomics, Yale University: Collection method of the submission from Yale Center for Mendelian Genomics, Yale University:
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_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006

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