ClinVar Miner

List of variants in gene LCT reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_002299.4(LCT):c.*429A>C rs77631953 0.01053
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837 0.00726
NM_002299.4(LCT):c.4866+12C>T rs191207394 0.00190
NM_002299.4(LCT):c.3597G>A (p.Ala1199=) rs79326512 0.00148
NM_002299.4(LCT):c.*235C>T rs116002539 0.00111
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088

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.