ClinVar Miner

List of variants in gene SLC26A2 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) rs780990131
NM_000112.4(SLC26A2):c.1448T>C (p.Leu483Pro)
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695

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.