ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.547-39T>G rs12452721
NM_000152.5(GAA):c.547-67C>G
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000298.6(PKLR):c.375+10G>T
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333

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.