ClinVar Miner

List of variants in gene SLC26A4 studied for Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

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Total variants: 226
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HGVS dbSNP
NC_000007.14:g.107660819C>T
NM_000441.1(SLC26A4):c.-139C>T rs879914861
NM_000441.1(SLC26A4):c.-186A>G rs555307083
NM_000441.1(SLC26A4):c.-189A>T rs111033440
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
NM_000441.2(SLC26A4):c.*1059T>C rs183926745
NM_000441.2(SLC26A4):c.*1068T>C
NM_000441.2(SLC26A4):c.*1123A>G rs141341508
NM_000441.2(SLC26A4):c.*11G>A rs113496951
NM_000441.2(SLC26A4):c.*1200G>A rs549659217
NM_000441.2(SLC26A4):c.*120G>A
NM_000441.2(SLC26A4):c.*1277A>G rs560359006
NM_000441.2(SLC26A4):c.*1302T>G
NM_000441.2(SLC26A4):c.*1466T>A
NM_000441.2(SLC26A4):c.*1517G>C rs2712205
NM_000441.2(SLC26A4):c.*1558T>C
NM_000441.2(SLC26A4):c.*1563C>A
NM_000441.2(SLC26A4):c.*1610C>T rs192222034
NM_000441.2(SLC26A4):c.*1640G>T rs886061891
NM_000441.2(SLC26A4):c.*1672G>A
NM_000441.2(SLC26A4):c.*1682C>T
NM_000441.2(SLC26A4):c.*16G>T
NM_000441.2(SLC26A4):c.*1700A>T
NM_000441.2(SLC26A4):c.*1735C>T
NM_000441.2(SLC26A4):c.*1789G>A
NM_000441.2(SLC26A4):c.*1797G>C rs76820337
NM_000441.2(SLC26A4):c.*1836C>T
NM_000441.2(SLC26A4):c.*1868C>G
NM_000441.2(SLC26A4):c.*1875G>C rs886061892
NM_000441.2(SLC26A4):c.*1905G>A
NM_000441.2(SLC26A4):c.*1945G>A
NM_000441.2(SLC26A4):c.*1960T>A rs886061893
NM_000441.2(SLC26A4):c.*1982C>A
NM_000441.2(SLC26A4):c.*200A>T
NM_000441.2(SLC26A4):c.*201C>A
NM_000441.2(SLC26A4):c.*202G>A
NM_000441.2(SLC26A4):c.*2047A>G rs534409544
NM_000441.2(SLC26A4):c.*2065G>A
NM_000441.2(SLC26A4):c.*2093T>G
NM_000441.2(SLC26A4):c.*2147G>A rs886061894
NM_000441.2(SLC26A4):c.*2237A>G
NM_000441.2(SLC26A4):c.*2307A>G
NM_000441.2(SLC26A4):c.*239C>T rs113516368
NM_000441.2(SLC26A4):c.*343C>A rs139104953
NM_000441.2(SLC26A4):c.*350C>T
NM_000441.2(SLC26A4):c.*351G>A
NM_000441.2(SLC26A4):c.*36C>T
NM_000441.2(SLC26A4):c.*376A>G
NM_000441.2(SLC26A4):c.*397T>C
NM_000441.2(SLC26A4):c.*409A>T rs752578836
NM_000441.2(SLC26A4):c.*51T>C rs371263685
NM_000441.2(SLC26A4):c.*523A>G rs560536749
NM_000441.2(SLC26A4):c.*614C>T rs77315223
NM_000441.2(SLC26A4):c.*618A>G rs886061888
NM_000441.2(SLC26A4):c.*69C>A rs76894072
NM_000441.2(SLC26A4):c.*780T>C rs527503006
NM_000441.2(SLC26A4):c.*791A>G rs146458433
NM_000441.2(SLC26A4):c.*840C>T rs886061889
NM_000441.2(SLC26A4):c.*868G>A rs2712218
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474
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.1110A>G (p.Val370=) rs886061886
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1223C>T (p.Ser408Phe) rs1584325160
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys) rs111033220
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1264-12T>A
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1277T>A (p.Ile426Asn) rs375540945
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) rs1284633493
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) rs1562835515
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) rs747076316
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
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.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344
NM_000441.2(SLC26A4):c.1615-2A>G
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg)
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.1708-27_1708-11del rs1554360816
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779
NM_000441.2(SLC26A4):c.190G>A (p.Val64Met)
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423
NM_000441.2(SLC26A4):c.1970G>A (p.Ser657Asn) rs1584337228
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
NM_000441.2(SLC26A4):c.1997C>T (p.Ser666Phe) rs1584337274
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) rs909072667
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808
NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu)
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val)
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) rs1554362735
NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro) rs1584344549
NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg)
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347
NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) rs772522003
NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys)
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.2236-15G>A
NM_000441.2(SLC26A4):c.2236-6T>C
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn)
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302
NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr)
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp)
NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu)
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
NM_000441.2(SLC26A4):c.392G>T (p.Gly131Val) rs1584304377
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.415+2T>C
NM_000441.2(SLC26A4):c.416-13T>C rs77553387
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) rs1554354787
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) rs200229408
NM_000441.2(SLC26A4):c.540T>G (p.Ala180=)
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670
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.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.601-5C>T rs546450643
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) rs773861155
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
NM_000441.2(SLC26A4):c.765+3A>C rs483353048
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)
NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) rs886061884
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) rs765095794
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266
NM_000441.2(SLC26A4):c.917del (p.Val306fs) rs1584317722
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000441.2(SLC26A4):c.919A>G (p.Thr307Ala) rs1584317852
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758
SLC26A4, 5-BP INS, NT2111

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