ClinVar Miner

List of variants in gene L1CAM reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) rs1042512 0.03189
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01697
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) rs73640833 0.00445
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266 0.00285
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027

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.