List of variants reported as pathogenic for Adams-Oliver syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter)	rs2133337500
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg)	rs796065347
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)	rs796065346
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp)	rs796065345
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter)	rs796065344
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter)	rs61750844
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro)	rs796065350
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)	rs796065348
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu)	rs796065351
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr)	rs796065349

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