ClinVar Miner

List of variants reported as pathogenic for Marfan syndrome by Center of Excellence for Medical Genomics, Chulalongkorn University

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp) rs886039054

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