ClinVar Miner

List of variants in gene SLC34A3 reported as uncertain significance by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=) rs369565150 0.00018
NM_001177316.2(SLC34A3):c.1051C>T (p.Arg351Cys) rs387907514 0.00001
NM_001177316.2(SLC34A3):c.585C>T (p.His195=) rs387907515 0.00001
NM_001177316.2(SLC34A3):c.218T>C (p.Val73Ala) rs387907511
NM_001177316.2(SLC34A3):c.245G>T (p.Ser82Ile) rs387907509
NM_001177316.2(SLC34A3):c.439G>A (p.Ala147Thr) rs387907512
NM_001177316.2(SLC34A3):c.472C>T (p.Pro158Ser) rs387907510
NM_001177316.2(SLC34A3):c.516C>G (p.Thr172=) rs387907513
NM_001177316.2(SLC34A3):c.572G>A (p.Gly191Asp) rs387907508

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.