List of variants in gene THBD reported by NIHR Bioresource Rare Diseases, University of Cambridge

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000361.3(THBD):c.1433C>T (p.Thr478Ile)	rs574192210	0.00002
NM_000361.3(THBD):c.1357G>A (p.Gly453Arg)	rs1189569754	0.00001
NM_000361.3(THBD):c.1487del (p.Pro496fs)	rs1600409323
NM_000361.3(THBD):c.1611C>A (p.Cys537Ter)	rs1600409143
NM_000361.3(THBD):c.245del (p.Gly82fs)	rs1600410451
NM_000361.3(THBD):c.778C>G (p.Pro260Ala)	rs1362772246

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.