List of variants in gene combination FBN1, LOC113939944 reported as likely benign for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)	rs146726731	0.00021
NM_000138.5(FBN1):c.1147+7G>A	rs373156788	0.00005
NM_000138.5(FBN1):c.1116C>T (p.Val372=)	rs774193938	0.00004
NM_000138.5(FBN1):c.1147+20T>C	rs746088095	0.00002
NM_000138.5(FBN1):c.1026C>T (p.Asn342=)	rs769282306	0.00001
NM_000138.5(FBN1):c.1086C>T (p.Ala362=)	rs1338617046	0.00001
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)	rs536588176	0.00001
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)	rs1191931914	0.00001
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)	rs766162654	0.00001
NM_000138.5(FBN1):c.1131T>C (p.Cys377=)	rs769211348	0.00001
NM_000138.5(FBN1):c.1147+16G>A	rs780632581	0.00001
NM_000138.5(FBN1):c.1032C>T (p.Arg344=)	rs2141336180
NM_000138.5(FBN1):c.1038T>A (p.Ser346=)	rs2141336171
NM_000138.5(FBN1):c.1113T>C (p.Thr371=)
NM_000138.5(FBN1):c.1147+19A>G	rs369942195
NM_000138.5(FBN1):c.989-8G>A

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