ClinVar Miner

List of variants reported for Familial hypokalemia-hypomagnesemia by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser) rs2055190908
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser) rs1429832884
NM_001126108.2(SLC12A3):c.1336-3C>A rs1295643797
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp) rs139743444
NM_001126108.2(SLC12A3):c.2576del (p.Cys859fs) rs1555501632
NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro) rs1555499151
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro) rs1596890176

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.