ClinVar Miner

List of variants in gene TWIST1 studied for TWIST1-related craniosynostosis; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome; Sweeney-Cox syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)	rs878852992	0.00102
NM_000474.4(TWIST1):c.316C>G (p.Leu106Val)	rs1230428800	0.00001
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)	rs760471055

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