ClinVar Miner

List of variants in gene combination LOC129998021, TWIST1 reported as likely benign for TWIST1-related craniosynostosis; Saethre-Chotzen syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.420G>C (p.Ser140=) rs73079389 0.00046
NM_000474.4(TWIST1):c.546G>T (p.Arg182=) rs115322362 0.00001
NM_000474.4(TWIST1):c.600G>C (p.Ala200=)

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