List of variants studied for Adams-Oliver syndrome by Mendelics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu)	rs12978266	0.53878
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)	rs80340744	0.00645
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro)	rs201236538	0.00418
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)	rs76371972	0.00404
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)	rs139600783	0.00337
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	rs183156491	0.00171
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)	rs79782048	0.00079
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln)	rs200472954	0.00016
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)	rs780710009	0.00006
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)	rs200520088
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro)	rs764854903
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser)	rs771440130
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro)	rs747384159
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)	rs770333242
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro)	rs202145498

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