List of variants reported as likely pathogenic for Marfan and Marfan-related disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)	rs387907303
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)	rs1555405092
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)	rs730880214

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