List of variants reported as pathogenic for syndromic craniosynostosis by Klinisk genetik och genomik Research, Gothenburg University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 7p21.1(chr7:19066802-19662813)x1
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)	rs1585617240
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)	rs373613946

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