List of variants reported as uncertain significance for Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)	rs770860280	0.00005
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)	rs375939213	0.00004
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)	rs539103389	0.00003
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)	rs368650399	0.00002
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)	rs756111066	0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)	rs193922200	0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)	rs762532435	0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)	rs761187818	0.00001
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly)	rs1566914907
NM_000138.5(FBN1):c.2704A>G (p.Arg902Gly)	rs1419423251
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)	rs1555398387
NM_000138.5(FBN1):c.3696C>G (p.Asp1232Glu)
NM_000138.5(FBN1):c.6473T>G (p.Ile2158Ser)	rs751560904
NM_000138.5(FBN1):c.8068A>G (p.Met2690Val)

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