ClinVar Miner

List of variants in gene FBN2 studied for Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 9
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HGVS dbSNP
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del) rs730880109
NM_001999.4(FBN2):c.1849+8A>G rs747219934
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.8376C>T (p.Ile2792=) rs142747169
NM_001999.4(FBN2):c.891C>A (p.Gly297=) rs539258943

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