ClinVar Miner

List of variants in gene SLC9A6 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr) rs2071568073 0.00002
NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met) rs1229345478 0.00001
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met) rs782759179 0.00001
NM_001379110.1(SLC9A6):c.638-5A>G rs1057520615 0.00001
NM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly) rs1248694142 0.00001
NM_001379110.1(SLC9A6):c.-51G>A rs2089321131
NM_001379110.1(SLC9A6):c.1260AAG[1] (p.Arg421del) rs2521367951
NM_001379110.1(SLC9A6):c.1321A>G (p.Met441Val) rs2521382531
NM_001379110.1(SLC9A6):c.1387C>G (p.Leu463Val) rs2148189943
NM_001379110.1(SLC9A6):c.1394T>C (p.Ile465Thr) rs2521383035
NM_001379110.1(SLC9A6):c.1702A>G (p.Thr568Ala) rs2071481648
NM_001379110.1(SLC9A6):c.1777C>G (p.Gln593Glu) rs2521484199
NM_001379110.1(SLC9A6):c.284del (p.Ser95fs) rs2521144179
NM_001379110.1(SLC9A6):c.481G>T (p.Ala161Ser) rs2521183715
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn) rs2521184115
NM_001379110.1(SLC9A6):c.539G>A (p.Gly180Asp) rs2521188381

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.