ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Nilou-Genome Lab

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258

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.