List of variants reported as pathogenic for carbohydrate metabolism disease by New York Genome Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000352.6(ABCC8):c.3989-9G>A	rs151344623	0.00019
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142	0.00014
NM_000528.4(MAN2B1):c.1830+1G>C	rs80338677	0.00008
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	rs121918181	0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	rs386833988	0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)	rs267607061	0.00001
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_001080510.5(METTL23):c.169_172del (p.His57fs)	rs587777644

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.