List of variants in gene TH reported as likely benign by PreventionGenetics, part of Exact Sciences

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00359
NM_000360.4(TH):c.1398C>T (p.Ile466=)	rs118175546	0.00056
NM_000360.4(TH):c.1255G>A (p.Val419Met)	rs184106392	0.00034
NM_000360.4(TH):c.627C>G (p.Ile209Met)	rs202149985	0.00027
NM_000360.4(TH):c.594G>T (p.Val198=)	rs544661832	0.00026
NM_000360.4(TH):c.372G>A (p.Gly124=)	rs773806238	0.00014
NM_000360.4(TH):c.108G>A (p.Gly36=)	rs372002058	0.00012
NM_000360.4(TH):c.1389G>A (p.Thr463=)	rs370029424	0.00010
NM_000360.4(TH):c.685A>T (p.Ile229Phe)	rs778613708	0.00008
NM_000360.4(TH):c.252G>A (p.Leu84=)	rs758016812	0.00007
NM_000360.4(TH):c.285G>A (p.Ala95=)	rs749856378	0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=)	rs1239693053	0.00001
NM_000360.4(TH):c.1390C>T (p.Leu464=)	rs777421313
NM_000360.4(TH):c.313-38_313-35del	rs200462975
NM_000360.4(TH):c.342G>A (p.Glu114=)	rs886038763
NM_000360.4(TH):c.517C>T (p.Leu173=)
NM_000360.4(TH):c.576+8G>T	rs372753775
NM_000360.4(TH):c.81G>T (p.Glu27Asp)	rs139742336
NM_000360.4(TH):c.842-38C>G

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.