List of variants studied for carbohydrate metabolism disease by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00003
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)	rs774393243	0.00002
NM_002863.5(PYGL):c.1768+1G>A	rs113993982	0.00002
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)	rs121909744	0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)	rs1349343839	0.00001
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	rs1221156663
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	rs121907940
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln)	rs1583879945
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)	rs2153022799
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	rs2153023287
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	rs398123260
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup)	rs1554682769
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)	rs1909818289
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)	rs1945617407
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)	rs563526275
NM_020066.5(FMN2):c.162del (p.Gly55fs)	rs1572736047

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.