ClinVar Miner

List of variants reported as likely pathogenic for aortic aneurysm, familial thoracic 1 by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249 0.00006
NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp) rs749960549 0.00002
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe) rs1566894230
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565

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