ClinVar Miner

List of variants in gene SLC26A4 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.599del (p.Gln200fs) rs1385727683 0.00003
NM_000441.2(SLC26A4):c.1001G>A (p.Gly334Glu) rs146281367 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1150-1G>A rs1791525285 0.00001
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs) rs1271700356 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718 0.00001
NM_000441.2(SLC26A4):c.349del (p.Leu117fs) rs1275009555 0.00001
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro) rs121908365 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000441.2(SLC26A4):c.415+7A>G rs765884316 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.704A>G (p.Gln235Arg) rs752485540 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NC_000007.13:g.(?_107301201)_(107303890_?)del
NC_000007.13:g.(?_107301201)_(107315564_?)del
NC_000007.13:g.(?_107301201)_(107324012_?)del
NC_000007.13:g.(?_107303728)_(107303890_?)del
NC_000007.13:g.(?_107303728)_(107312703_?)del
NC_000007.13:g.(?_107312573)_(107315564_?)del
NC_000007.13:g.(?_107314599)_(107315564_?)del
NC_000007.13:g.(?_107332383)_(107336443_?)del
NC_000007.13:g.(?_107334836)_(107335171_?)del
NC_000007.13:g.(?_107334836)_(107342512_?)del
NC_000007.13:g.(?_107342252)_(107353087_?)del
NC_000007.14:g.(?_107660756)_(107661815_?)del
NC_000007.14:g.(?_107694391)_(107696049_?)del
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.1001+1G>C
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001+2T>A rs2129314581
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1002del
NM_000441.2(SLC26A4):c.1011del (p.Pro338fs) rs2129315787
NM_000441.2(SLC26A4):c.1034T>A (p.Leu345Ter)
NM_000441.2(SLC26A4):c.1042G>T (p.Glu348Ter)
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs) rs2129315801
NM_000441.2(SLC26A4):c.1058C>G (p.Ser353Ter)
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1131C>A (p.Tyr377Ter) rs2129315827
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) rs1374999656
NM_000441.2(SLC26A4):c.1150-1G>C
NM_000441.2(SLC26A4):c.1150-1G>T rs1791525285
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_000441.2(SLC26A4):c.1171A>C (p.Ser391Arg) rs1791526034
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1181del (p.Phe394fs)
NM_000441.2(SLC26A4):c.1194_1198del (p.Phe398fs) rs2129316011
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1216_1220del (p.Ala406fs)
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs) rs886043058
NM_000441.2(SLC26A4):c.1237C>T (p.Gln413Ter)
NM_000441.2(SLC26A4):c.1238A>C (p.Gln413Pro)
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp) rs1791675770
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs) rs1584292992
NM_000441.2(SLC26A4):c.1316_1317dup (p.Lys440fs)
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1341+1G>A rs376653349
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs) rs1791686622
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1390C>T (p.Gln464Ter)
NM_000441.2(SLC26A4):c.1392del (p.Gln464fs) rs756019325
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1444T>C (p.Trp482Arg)
NM_000441.2(SLC26A4):c.145_146dup (p.Ser49fs)
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
NM_000441.2(SLC26A4):c.1536_1540delinsTCCACAACTCACTG (p.Arg512_Gln514delinsSerProGlnLeuThrGlu)
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1540C>T (p.Gln514Ter)
NM_000441.2(SLC26A4):c.1543T>C (p.Phe515Leu)
NM_000441.2(SLC26A4):c.1545T>A (p.Phe515Leu)
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1590C>G (p.Tyr530Ter)
NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg) rs2129317533
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1604dup (p.Asn535fs)
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.1614+1G>T rs111033312
NM_000441.2(SLC26A4):c.162C>A (p.Cys54Ter) rs2129308766
NM_000441.2(SLC26A4):c.164+1G>C rs1021962985
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1645A>T (p.Arg549Ter) rs2129317899
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1668del (p.Phe555_Tyr556insTer) rs2129317908
NM_000441.2(SLC26A4):c.1673A>T (p.Asn558Ile)
NM_000441.2(SLC26A4):c.1692del (p.Lys564fs) rs746427774
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1707+1G>A
NM_000441.2(SLC26A4):c.1711G>T (p.Gly571Ter) rs1791873485
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1816del (p.Ser606fs) rs1185664659
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
NM_000441.2(SLC26A4):c.1881del (p.Asp628fs)
NM_000441.2(SLC26A4):c.196_197del (p.Lys66fs)
NM_000441.2(SLC26A4):c.1985_1998del (p.Cys662fs)
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2005_2006dup (p.Asp669fs)
NM_000441.2(SLC26A4):c.2010del (p.Val671fs)
NM_000441.2(SLC26A4):c.2014G>A (p.Gly672Arg)
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs) rs2129318299
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) rs1345175795
NM_000441.2(SLC26A4):c.233A>G (p.Tyr78Cys)
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.242dup (p.Glu82fs)
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter) rs758648839
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.304G>C (p.Gly102Arg)
NM_000441.2(SLC26A4):c.315T>G (p.Tyr105Ter)
NM_000441.2(SLC26A4):c.320dup (p.Leu108fs)
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.365del (p.Phe122fs) rs786204730
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.387del (p.Phe130fs) rs2129311265
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.398C>A (p.Ser133Ter)
NM_000441.2(SLC26A4):c.398C>G (p.Ser133Ter)
NM_000441.2(SLC26A4):c.406_407dup (p.Val138fs) rs2129311273
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.422T>C (p.Phe141Ser)
NM_000441.2(SLC26A4):c.43G>T (p.Glu15Ter)
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) rs1554354787
NM_000441.2(SLC26A4):c.553A>T (p.Arg185Ter)
NM_000441.2(SLC26A4):c.556_562del (p.Val186fs)
NM_000441.2(SLC26A4):c.567del (p.Ser190fs) rs1790959315
NM_000441.2(SLC26A4):c.584del (p.Leu195fs)
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.606del (p.Phe203fs)
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter) rs1057516678
NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) rs773861155
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
NM_000441.2(SLC26A4):c.665G>A (p.Gly222Asp)
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
NM_000441.2(SLC26A4):c.675del (p.Ala226fs) rs2129311949
NM_000441.2(SLC26A4):c.688C>T (p.Gln230Ter) rs2129311951
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter) rs2129311961
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs) rs750365180
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000441.2(SLC26A4):c.765+3A>T rs483353048
NM_000441.2(SLC26A4):c.76dup (p.Val26fs)
NM_000441.2(SLC26A4):c.774_795del (p.Glu259fs)
NM_000441.2(SLC26A4):c.783dup (p.Gln262fs)
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.908_910del (p.Glu303del)
NM_000441.2(SLC26A4):c.915del (p.Ile305fs)
NM_000441.2(SLC26A4):c.918+1G>C rs111033245
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.918+2T>A
NM_000441.2(SLC26A4):c.941C>G (p.Ser314Ter) rs1791311163
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_000441.2(SLC26A4):c.965dup (p.Asn322fs) rs747834704
NM_000441.2(SLC26A4):c.99_100del (p.Gln34fs)

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.