ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000138.5(FBN1):c.76G>C (p.Asp26His) rs146267697 0.00018
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956

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