ClinVar Miner

List of variants in gene SI reported as pathogenic for congenital sucrase-isomaltase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter) rs200451408 0.00010
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro) rs121912611 0.00002
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter) rs1000661675 0.00001
NM_001041.4(SI):c.1022T>C (p.Leu341Pro) rs267607049
NM_001041.4(SI):c.1859T>C (p.Leu620Pro) rs121912613
NM_001041.4(SI):c.2025dup (p.Gly676fs) rs2108219188
NM_001041.4(SI):c.2242C>T (p.Gln748Ter) rs2108217077
NM_001041.4(SI):c.273_274del (p.Gly92fs)
NM_001041.4(SI):c.350A>G (p.Gln117Arg) rs121912612
NM_001041.4(SI):c.3586_3587del (p.Met1196fs) rs780535026
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr) rs121912614
NM_001041.4(SI):c.793del (p.Gln265fs) rs1714177959

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.