List of variants in gene TARS1 studied for Trichothiodystrophy 7, nonphotosensitive

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152295.5(TARS1):c.985-35G>A	rs3765145	0.51204
NM_152295.5(TARS1):c.984+27T>A	rs2270903	0.51180
NM_152295.5(TARS1):c.1653G>A (p.Ala551=)	rs3736393	0.09094
NM_152295.5(TARS1):c.62G>A (p.Gly21Asp)	rs34334786	0.01136
NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)	rs749888012	0.00001
NM_152295.5(TARS1):c.1829dup (p.Lys611fs)
NM_152295.5(TARS1):c.680T>C (p.Leu227Pro)	rs1579584983
NM_152295.5(TARS1):c.826A>G (p.Lys276Glu)	rs1579585658

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.