List of variants in gene SHOX reported as uncertain significance by GeneDx

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)	rs778160013	0.00291
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)	rs146304983	0.00026
NM_006883.2(SHOX):c.-432-3C>A	rs1030279647	0.00016
NM_000451.4(SHOX):c.839G>C (p.Arg280Pro)	rs1476996812	0.00001
NM_000451.4(SHOX):c.266G>T (p.Arg89Ile)
NM_000451.4(SHOX):c.39C>A (p.Asp13Glu)
NM_000451.4(SHOX):c.502C>G (p.Arg168Gly)
NM_000451.4(SHOX):c.611C>A (p.Ala204Asp)	rs763473105
NM_000451.4(SHOX):c.66AGGCGG[1] (p.Gly27_Gly28del)	rs747349135
NM_000451.4(SHOX):c.755C>A (p.Ser252Ter)	rs1281106288
NM_000451.4(SHOX):c.829G>A (p.Ala277Thr)	rs398123403
NM_006883.2(SHOX):c.-433+2T>C

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.