ClinVar Miner

List of variants reported as pathogenic for Familial aortopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_000090.4(COL3A1):c.2282_2446-52del
NM_000090.4(COL3A1):c.2282_2446-56del
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) rs886039303
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792

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