List of variants in gene combination FBN1, LOC126862124 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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	rs201273753	0.00034
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)	rs755085498	0.00005
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)	rs1258352189	0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)	rs778219976	0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)	rs778145681	0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	rs377338217	0.00001
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)	rs560230585	0.00001

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