ClinVar Miner

List of variants in gene SLC26A4 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.*868G>A rs2712218 0.17928
NM_000441.2(SLC26A4):c.*1797G>C rs76820337 0.04454
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_000441.2(SLC26A4):c.*1302T>G rs112019874 0.01487
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_000441.2(SLC26A4):c.2236-25T>A rs2301634 0.00026
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.-66C>G rs17154282

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.