ClinVar Miner

List of variants reported as pathogenic for TWIST1-related craniosynostosis by OMIM

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr)	rs121909190
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)	rs121909191

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