List of variants in gene GUCA1A, GUCA1B studied for inborn disorder of amino acid metabolism

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002098.6(GUCA1B):c.*1318G>A	rs1997980	0.19007
NM_002098.6(GUCA1B):c.*457A>G	rs9471797	0.08647
NM_002098.6(GUCA1B):c.*220A>G	rs3749920	0.07278
NM_002098.6(GUCA1B):c.*503G>A	rs13211352	0.05737
NM_002098.6(GUCA1B):c.*480G>A	rs113734032	0.02758
NM_002098.6(GUCA1B):c.*429G>A	rs114573886	0.02273
NM_002098.6(GUCA1B):c.*488C>T	rs7764586	0.02085
NM_002098.6(GUCA1B):c.*295G>A	rs73733110	0.01608
NM_002098.6(GUCA1B):c.*433A>G	rs140024841	0.01581
NM_002098.6(GUCA1B):c.*477C>T	rs143063040	0.01574
NM_002098.6(GUCA1B):c.*1088G>C	rs76451756	0.01569
NM_002098.6(GUCA1B):c.*1126A>G	rs115180990	0.01569
NM_002098.6(GUCA1B):c.*1203T>C	rs75437254	0.01565
NM_002098.6(GUCA1B):c.*928A>G	rs114824449	0.01564
NM_002098.6(GUCA1B):c.*666G>T	rs140229339	0.01415
NM_002098.6(GUCA1B):c.*618G>A	rs150308756	0.01146
NM_002098.6(GUCA1B):c.*581G>A	rs138314395	0.00660

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.