List of variants in gene NANS, TRIM14 studied 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
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018946.4(NANS):c.153T>C (p.Ala51=)	rs13049	0.61083
NM_018946.4(NANS):c.102C>T (p.Asp34=)	rs3739670	0.32781
NM_018946.4(NANS):c.562T>C (p.Tyr188His)	rs878852981	0.00003
NM_018946.4(NANS):c.448+1G>A	rs779218846	0.00001
NM_018946.4(NANS):c.607T>C (p.Tyr203His)	rs745594354	0.00001
NM_018946.4(NANS):c.709C>T (p.Arg237Cys)	rs878852982	0.00001
NM_018946.4(NANS):c.133-12T>A	rs1828949796
NM_018946.4(NANS):c.207del (p.Arg69fs)	rs2131619700
NM_018946.4(NANS):c.389dup (p.Lys131fs)	rs878853267
NM_018946.4(NANS):c.398G>T (p.Gly133Val)	rs878852980
NM_018946.4(NANS):c.449-10_449-5delinsATGG	rs879255602
NM_018946.4(NANS):c.452G>A (p.Arg151His)	rs140402727
NM_018946.4(NANS):c.476T>G (p.Met159Arg)	rs2117967310
NM_018946.4(NANS):c.668T>C (p.Ile223Thr)
NM_018946.4(NANS):c.735G>A (p.Trp245Ter)
NM_018946.4(NANS):c.772G>T (p.Glu258Ter)
NM_018946.4(NANS):c.937A>G (p.Thr313Ala)
NM_018946.4(NANS):c.979_981dup (p.Ile327dup)	rs878853268

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.