ClinVar Miner

List of variants reported as benign for Congenital glucose-galactose malabsorption by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233 0.47147
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001 0.04760
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448 0.04560
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397 0.04560
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430 0.04557
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011 0.04555
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704 0.04554
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816 0.04197
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317 0.01145
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460 0.01076
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala) rs33951240 0.00787
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280 0.00761
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967 0.00086
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=) rs139774349 0.00053
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00026
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=) rs148720069 0.00014
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) rs33918436 0.00011
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000343.4(SLC5A1):c.373-9C>T rs199690019 0.00001
NM_000343.4(SLC5A1):c.1130-10_1130-8del rs770678836
NM_000343.4(SLC5A1):c.1771+3G>A
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.885+20G>A

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.