ClinVar Miner

List of variants reported as pathogenic for Aortic aneurysm, familial thoracic 7 by OMIM

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Total variants: 3
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NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) rs387906782
NM_053025.4(MYLK):c.4471G>T (p.Ala1491Ser) rs1576422965
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781

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