List of variants reported as likely pathogenic for Aortic valve disease 1

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)	rs900988907
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)	rs863224901
NM_017617.5(NOTCH1):c.3171+1_5935-1del
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter)
NM_017617.5(NOTCH1):c.389del (p.Pro130fs)	rs1843413593
NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp)
NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter)

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