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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NC_000007.14:g.(?_19116693)_(19117341_?)del
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)	rs1585616948
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu)	rs1788580326
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)	rs1788579980
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)	rs2115396578
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)	rs1563159945
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)	rs2115396414

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