ClinVar Miner

List of variants reported as uncertain significance for Marfan syndrome by Genetics and Molecular Pathology, SA Pathology

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
NM_000138.5(FBN1):c.6313+5G>C	rs878853688
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)

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