List of variants reported as uncertain significance for Marfan syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)	rs146175905	0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)	rs147605116	0.00016
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)	rs201332554	0.00012
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)	rs137854460
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)	rs1557176102

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