List of variants reported as likely pathogenic for aortic aneurysm, familial thoracic 6 by Invitae

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.115C>A (p.Arg39Ser)	rs112901682
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr)	rs869025352
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)	rs1060500134
NM_001613.4(ACTA2):c.246C>G (p.Asp82Glu)	rs1254836237
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)	rs397516683
NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro)	rs1554841990
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala)	rs1589394154
NM_001613.4(ACTA2):c.55T>C (p.Cys19Arg)	rs2133273980
NM_001613.4(ACTA2):c.616G>A (p.Ala206Thr)	rs886042811
NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys)	rs886038852
NM_001613.4(ACTA2):c.767G>A (p.Arg256His)	rs766734961
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter)	rs886038978

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