List of variants in gene combination LOC108021846, SOX9 reported as pathogenic for bone development disease

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.124dup (p.Asp42fs)	rs2143237315
NM_000346.4(SOX9):c.197_226del (p.Glu66_Glu75del)
NM_000346.4(SOX9):c.218T>C (p.Ile73Thr)	rs2143238589
NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter)	rs1555629022
NM_000346.4(SOX9):c.255_256del (p.Asp85fs)	rs2143239047
NM_000346.4(SOX9):c.313G>T (p.Val105Phe)	rs2143239754
NM_000346.4(SOX9):c.326T>C (p.Met109Thr)
NM_000346.4(SOX9):c.334_335del (p.Phe112fs)
NM_000346.4(SOX9):c.337A>G (p.Met113Val)	rs2143240089
NM_000346.4(SOX9):c.349C>T (p.Gln117Ter)	rs1555629037
NM_000346.4(SOX9):c.359G>T (p.Arg120Leu)	rs2143240394

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.