ClinVar Miner

List of variants in gene SLC12A6 reported as likely benign by Natera, Inc.

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_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.3120C>T (p.Thr1040=) rs571120129 0.00105
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn) rs781088641 0.00011
NM_001365088.1(SLC12A6):c.918C>T (p.Asp306=) rs201041861 0.00006
NM_001365088.1(SLC12A6):c.924C>G (p.Leu308=) rs372465430 0.00004
NM_001365088.1(SLC12A6):c.1659T>C (p.Asp553=) rs750940125 0.00003
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.2859T>C (p.Ser953=) rs776132941 0.00002
NM_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=) rs373193470 0.00001
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.317-5del rs747243268

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.