List of variants reported as pathogenic for syndromic craniosynostosis by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)	rs121918489
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)	rs28931615
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000474.4(TWIST1):c.346C>T (p.Arg116Trp)
NM_006494.4(ERF):c.697C>T (p.Arg233Ter)	rs2036401878
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter)	rs2150884950
NM_021224.6(ZNF462):c.1975C>T (p.Gln659Ter)
NM_021224.6(ZNF462):c.220+1G>A	rs2131431481
NM_021224.6(ZNF462):c.3700C>T (p.Arg1234Ter)	rs2131488835
NM_207037.2(TCF12):c.812C>A (p.Ser271Ter)	rs554037047

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