ClinVar Miner

List of variants in gene combination FOXE3, LINC01389 reported as likely pathogenic for aortic aneurysm, familial thoracic 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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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_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565

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