ClinVar Miner

List of variants in gene SLC26A4 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 329
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HGVS dbSNP gnomAD frequency
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
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.1454C>T (p.Thr485Met) rs370029782 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.1983C>A (p.Asp661Glu) rs199588131 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.1746del (p.Ala584fs) rs1241745103 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.2007C>A (p.Asp669Glu) rs749013429 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.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 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.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 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.(107303881_107312582)_(107315555_107323646)del
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_000441.1(SLC26A4):c.[1468A>C;1489G>A]
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
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.1002-4C>G rs2129315781
NM_000441.2(SLC26A4):c.1002del
NM_000441.2(SLC26A4):c.1011del (p.Pro338fs) rs2129315787
NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)
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.1087A>C (p.Ile363Leu) rs141158498
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1131C>A (p.Tyr377Ter) rs2129315827
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) rs1374999656
NM_000441.2(SLC26A4):c.1149+1G>A
NM_000441.2(SLC26A4):c.1149+1del rs1060499807
NM_000441.2(SLC26A4):c.1150-1G>C
NM_000441.2(SLC26A4):c.1150-1G>T rs1791525285
NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)
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.1204G>A (p.Val402Met) rs397516414
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.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-12T>A rs2129316889
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
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.1299dup (p.Ala434fs) rs2129316898
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs) rs1584292992
NM_000441.2(SLC26A4):c.1316_1317dup (p.Lys440fs)
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln) rs2129316906
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) rs1284633493
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) rs1562835515
NM_000441.2(SLC26A4):c.1341+1G>A rs376653349
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1342-1_1342insCTG rs2129316936
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.1369A>G (p.Asn457Asp) rs2129316944
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.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.1416G>A (p.Trp472Ter)
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+1G>A rs2129316961
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1444T>C (p.Trp482Arg)
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.145_146dup (p.Ser49fs)
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
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.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1545T>A (p.Phe515Leu)
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
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.164+2T>G
NM_000441.2(SLC26A4):c.1645A>T (p.Arg549Ter) rs2129317899
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1668T>G (p.Tyr556Ter)
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.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1711G>T (p.Gly571Ter) rs1791873485
NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu) rs2129318096
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter) rs1476190682
NM_000441.2(SLC26A4):c.1803+1G>C rs2129318119
NM_000441.2(SLC26A4):c.1803+2T>C rs768454870
NM_000441.2(SLC26A4):c.1816del (p.Ser606fs) rs1185664659
NM_000441.2(SLC26A4):c.1828del (p.Ser610fs) rs2129318234
NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter) rs1562839439
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.1985G>A (p.Cys662Tyr) rs2129318278
NM_000441.2(SLC26A4):c.1985_1998del (p.Cys662fs)
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) rs121908360
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.2028del (p.Arg677fs) rs2129318300
NM_000441.2(SLC26A4):c.2034+1G>T
NM_000441.2(SLC26A4):c.2039del (p.Val680fs) rs2129318784
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) rs1554361584
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2206C>T (p.Gln736Ter) rs1057524176
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
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.248G>A (p.Trp83Ter)
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.279T>A (p.Ser93Arg) rs2129309202
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
NM_000441.2(SLC26A4):c.301C>T (p.Gln101Ter) rs1562818685
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.305-1G>A rs1243584839
NM_000441.2(SLC26A4):c.315T>G (p.Tyr105Ter)
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) rs1562822565
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.382_384delinsAA (p.Phe128fs) rs886044696
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.3G>A (p.Met1Ile) rs786204426
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.414del (p.Gly139fs)
NM_000441.2(SLC26A4):c.415+2T>C rs2129311282
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu) rs2129311722
NM_000441.2(SLC26A4):c.422T>C (p.Phe141Ser)
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
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.574del (p.Ala191_Leu192insTer)
NM_000441.2(SLC26A4):c.584del (p.Leu195fs)
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) rs111033380
NM_000441.2(SLC26A4):c.593_600+8del rs2129311772
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.600+2T>C 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.624_632delinsACTTGGC (p.Gly209fs) rs2129311939
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.664G>A (p.Gly222Ser)
NM_000441.2(SLC26A4):c.665G>A (p.Gly222Asp)
NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup) rs2129311948
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.698_701del (p.Val233fs) rs2129311957
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+2T>C rs397516432
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.79T>C (p.Tyr27His) rs2129308726
NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly) rs2129314461
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234
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.917del (p.Val306fs) rs1584317722
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.997dup (p.Arg333fs) rs431905486
NM_000441.2(SLC26A4):c.99_100del (p.Gln34fs)

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