ClinVar Miner

List of variants reported as likely pathogenic for Familial aortopathy

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Total variants: 6
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HGVS dbSNP
NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val) rs1057521930
NM_000090.3(COL3A1):c.1691G>C (p.Gly564Ala) rs193922176
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.447+1G>A rs1559053022
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter) rs1055960218

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