ClinVar Miner

List of variants reported as likely benign for Transcobalamin II deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*313dup rs397940476

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.