List of variants studied for syndromic craniosynostosis by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)	rs141862996	0.00148
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)	rs200629599	0.00024
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)	rs139179843	0.00013
NM_004260.4(RECQL4):c.1132-8C>A	rs370660188	0.00010
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)	rs370558210	0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=)	rs1171554207	0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=)	rs766929334	0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met)	rs780282337	0.00001
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)	rs34642881
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)

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