List of variants studied for craniosynostosis by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	rs121918502
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)	rs1585617015
NM_001378418.1(TCF20):c.1166_1167del (p.Leu389fs)	rs2147218338
NM_003036.4(SKI):c.539C>T (p.Thr180Met)	rs863223722
NM_003036.4(SKI):c.94C>G (p.Leu32Val)	rs387907304
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs)	rs1554680188
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer)	rs1554679726
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)	rs2074912574

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