List of variants studied for syndromic craniosynostosis by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val)	rs80053154	0.00001
NM_207037.2(TCF12):c.*3A>G	rs1224019481	0.00001
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	rs28931614
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_004260.4(RECQL4):c.1000G>T (p.Glu334Ter)
NM_006766.5(KAT6A):c.2378del (p.Glu793fs)
NM_016277.5(RAB23):c.482-1G>A

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