ClinVar Miner

Variants with conflicting interpretations "likely benign" from NIHR Bioresource Rare Diseases, University of Cambridge and "uncertain significance" from any submitter

Minimum review status of the submission from NIHR Bioresource Rare Diseases, University of Cambridge: Collection method of the submission from NIHR Bioresource Rare Diseases, University of Cambridge:
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_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) rs145300204 0.00004
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786 0.00004

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