List of variants in gene combination FBN1, LOC126862124 reported as likely pathogenic for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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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)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4211-2A>G
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly)	rs2043386794
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)	rs1555397556
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)	rs1555397548

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