List of variants in gene TWIST1 reported as pathogenic for Saethre-Chotzen syndrome

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 7p21.1(chr7:19152100-19157785)
NM_000474.4(TWIST1):c.-18C>T
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)	rs1585617240
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)	rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter)	rs104894054
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)	rs104894054
NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro)	rs104894057
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter)	rs121909187
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)	rs121909188
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro)	rs121909189
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)	rs1585617015
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)	rs1554441989
NM_000474.4(TWIST1):c.408del (p.Thr137fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.