List of variants in gene SOX9 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.531G>A (p.Arg177=)	rs144824678	0.00071
NM_000346.4(SOX9):c.686-8del	rs564339518	0.00060
NM_000346.4(SOX9):c.685+7C>T	rs370951695	0.00008
NM_000346.4(SOX9):c.1092G>A (p.Ala364=)	rs754417848	0.00006
NM_000346.4(SOX9):c.1029G>A (p.Pro343=)	rs747054712	0.00004
NM_000346.4(SOX9):c.918G>A (p.Val306=)	rs367966473	0.00004
NM_000346.4(SOX9):c.519G>A (p.Lys173=)	rs202115157	0.00002
NM_000346.4(SOX9):c.737A>C (p.Gln246Pro)	rs773882079	0.00001
NM_000346.4(SOX9):c.1212C>T (p.Pro404=)	rs749575769
NM_000346.4(SOX9):c.1288C>T (p.Pro430Ser)	rs886042200
NM_000346.4(SOX9):c.507C>G (p.His169Gln)	rs2229989
NM_000346.4(SOX9):c.530G>A (p.Arg177Gln)	rs794727246
NM_000346.4(SOX9):c.535A>G (p.Arg179Gly)	rs794727247

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.