List of variants reported as likely pathogenic for syndromic craniosynostosis by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	rs386833844	0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)	rs1335391766	0.00001
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)	rs1057519042
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg)	rs2115396737
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)	rs2108328020

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