List of variants reported as pathogenic for syndromic craniosynostosis by 3billion

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)	rs121918492	0.00001
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	rs121918491
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	rs121918502
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	rs121918506
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.870G>T (p.Trp290Cys)	rs121918499
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)	rs104894054
NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)	rs121909188
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)	rs587777008
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter)	rs2150886359
NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs)	rs1555412971

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