ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Centre for Genomic and Experimental Medicine, University of Edinburgh and "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: 5
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_004612.4(TGFBR1):c.974-2A>G rs1554701881

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