ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Vascular Biology, Beijing Anzhen Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Vascular Biology, Beijing Anzhen Hospital: Collection method of the submission from Department of Vascular Biology, Beijing Anzhen 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_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670

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