ClinVar Miner

List of variants in gene SLC26A4 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_107336368)_(107355960_?)del
NC_000007.14:g.(?_107672128)_(107672258_?)del
NC_000007.14:g.(?_107674154)_(107683567_?)dup
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316
NM_000441.2(SLC26A4):c.1437+1G>A
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.1707+2T>G
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1803+2T>C
NM_000441.2(SLC26A4):c.2034+1G>A rs759683649
NM_000441.2(SLC26A4):c.2090-1G>A rs1455597424
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779
NM_000441.2(SLC26A4):c.305-1G>C
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
NM_000441.2(SLC26A4):c.439A>C (p.Met147Leu)

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.