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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HGVS dbSNP
NM_000474.3(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.3(TWIST1):c.395G>C (p.Arg132Pro) rs1554441995
NM_000474.3(TWIST1):c.408dup (p.Thr137Hisfs) rs1554441993

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