ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_001613.4(ACTA2):c.455-17G>A rs3816245 0.00636
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046

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