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: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1160C>A (p.Ala387Asp) rs777333979 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_000441.2(SLC26A4):c.755C>T (p.Ser252Phe) rs375433525 0.00001
NC_000007.13:g.(?_107329488)_(107353077_?)dup
NC_000007.13:g.(?_107336368)_(107355960_?)del
NC_000007.14:g.(?_107674154)_(107683567_?)dup
NM_000441.2(SLC26A4):c.1027G>C (p.Val343Leu)
NM_000441.2(SLC26A4):c.1159G>T (p.Ala387Ser)
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1228A>G (p.Thr410Ala) rs1286976213
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys) rs111033220
NM_000441.2(SLC26A4):c.1238A>T (p.Gln413Leu)
NM_000441.2(SLC26A4):c.1259C>T (p.Thr420Ile)
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1270G>C (p.Gly424Arg)
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)
NM_000441.2(SLC26A4):c.1342-1G>A
NM_000441.2(SLC26A4):c.1370A>G (p.Asn457Ser)
NM_000441.2(SLC26A4):c.1437+1G>A rs2129316961
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1438-2A>G rs1057516717
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.1541A>C (p.Gln514Pro)
NM_000441.2(SLC26A4):c.1545-1G>A
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1588T>G (p.Tyr530Asp)
NM_000441.2(SLC26A4):c.1614+5G>A
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.1707+2T>G rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1803+2T>C rs768454870
NM_000441.2(SLC26A4):c.1999T>C (p.Phe667Leu)
NM_000441.2(SLC26A4):c.2027T>C (p.Leu676Pro) rs111033318
NM_000441.2(SLC26A4):c.2034+1G>A rs759683649
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg) rs2129309202
NM_000441.2(SLC26A4):c.290T>A (p.Val97Glu)
NM_000441.2(SLC26A4):c.305-1G>C rs1243584839
NM_000441.2(SLC26A4):c.305-2A>G
NM_000441.2(SLC26A4):c.316G>A (p.Ala106Thr) rs2129311226
NM_000441.2(SLC26A4):c.335C>T (p.Pro112Leu) rs2129311240
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp) rs2129311246
NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val) rs2129311246
NM_000441.2(SLC26A4):c.398C>T (p.Ser133Leu) rs2129311271
NM_000441.2(SLC26A4):c.415+1G>C rs2129311278
NM_000441.2(SLC26A4):c.416-2A>C
NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)
NM_000441.2(SLC26A4):c.439A>C (p.Met147Leu) rs760413427
NM_000441.2(SLC26A4):c.466G>C (p.Ala156Pro)
NM_000441.2(SLC26A4):c.691G>A (p.Val231Met) rs483353047
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_000441.2(SLC26A4):c.692T>C (p.Val231Ala)
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000441.2(SLC26A4):c.765+3A>C rs483353048
NM_000441.2(SLC26A4):c.765_765+3del rs756076960
NM_000441.2(SLC26A4):c.84C>G (p.Ser28Arg)
NM_000441.2(SLC26A4):c.908A>G (p.Glu303Gly)

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.