List of variants reported as uncertain significance for Loeys-Dietz 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_001999.4(FBN2):c.829G>A (p.Val277Ile)	rs146849637	0.00210
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)	rs375076580	0.00007
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)	rs794728263
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)	rs1554063781
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	rs35766612

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