List of variants reported as pathogenic for craniosynostosis by Department of Medical Genetics, Oslo University Hospital

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	rs121918487
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	rs77543610
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)	rs776587763
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)	rs121918501
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	rs121918499
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.309C>G (p.Tyr103Ter)	rs104894054
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)	rs104894059
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)	rs1064794325

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