List of variants reported as benign for Sucrase-isomaltase deficiency by Genome-Nilou Lab

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.4569G>A (p.Met1523Ile)	rs4855271	0.92178
NM_001041.4(SI):c.3888+19C>T	rs2290738	0.72200
NM_001041.4(SI):c.1797G>T (p.Ala599=)	rs9838509	0.58296
NM_001041.4(SI):c.1437C>T (p.Asn479=)	rs9290257	0.57954
NM_001041.4(SI):c.1512+25G>A	rs9290256	0.57954
NM_001041.4(SI):c.1278+42_1278+43insAT	rs60170840	0.57854
NM_001041.4(SI):c.1146+13A>C	rs9290259	0.57783
NM_001041.4(SI):c.691A>G (p.Thr231Ala)	rs9283633	0.56659
NM_001041.4(SI):c.43G>T (p.Val15Phe)	rs9290264	0.26247
NM_001041.4(SI):c.374-11del	rs11313475

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.