ClinVar Miner

List of variants reported as likely benign for Gitelman syndrome by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.1925+72C>G rs12596776 0.08327
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) rs147984554 0.00016
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) rs776210036 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) rs776382586 0.00003
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) rs764801122 0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) rs150633177 0.00001
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) rs191194366
NM_001126108.2(SLC12A3):c.741+8C>T rs200257610

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.