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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)	rs146849637	0.00210
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_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)	rs375076580	0.00007
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)	rs137854460
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)	rs794728263
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)	rs1557176102
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)	rs1554063781
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	rs35766612

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