List of variants reported as likely pathogenic for carbohydrate metabolism disease by NxGen MDx

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)	rs1403885484	0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	rs200448421	0.00001
NM_000152.5(GAA):c.1847dup (p.Asp616fs)	rs1475559733
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)	rs774605197
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)	rs2133738359
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)	rs760520781
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)	rs1554901747
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)	rs1291147781

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.