List of variants in gene combination FBN1, LOC130057019 reported as uncertain significance for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

Minimum submission review status:		Collection method:
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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.43G>A (p.Val15Met)	rs1890262474
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser)	rs794728201
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro)	rs1890262148
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala)	rs768993489
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)

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