List of variants reported as pathogenic 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 Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	rs193922228	0.00001
NM_000138.5(FBN1):c.1468+5G>A	rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	rs730880099
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)	rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)	rs193922185
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	rs794728195
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	rs137854467
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)	rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	rs111401431
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	rs113871094
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)	rs111984349

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