ClinVar Miner

List of variants in gene combination LCT, LOC126806353 reported as uncertain significance for congenital lactase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.1113G>A (p.Arg371=) rs148142216 0.00135
NM_002299.4(LCT):c.1539G>A (p.Glu513=) rs202186209 0.00054
NM_002299.4(LCT):c.1461G>A (p.Ala487=) rs146206234 0.00043
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) rs377102890 0.00006
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser) rs1428765941 0.00001
NM_002299.4(LCT):c.1116G>A (p.Ala372=) rs200277615 0.00001
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) rs886054868

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.