ClinVar Miner

List of variants in gene GCSH reported as benign for Non-ketotic hyperglycinemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004483.5(GCSH):c.159C>T (p.Phe53=) rs8177876 0.05863
NM_004483.5(GCSH):c.252T>C (p.Tyr84=) rs8177907 0.03948
NM_004483.5(GCSH):c.261C>G (p.Leu87=) rs8177908 0.03948
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser) rs8177877 0.03699
NM_004483.5(GCSH):c.292+9T>G rs8177909 0.00574
NM_004483.5(GCSH):c.293-16dup rs202181338

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.