ClinVar Miner

List of variants reported as likely pathogenic for Craniosynostosis 1; Saethre-Chotzen syndrome

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Total variants: 3
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NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)

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