ClinVar Miner

List of variants reported as likely benign 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: 4
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu) rs745950487 0.00004
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242

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