ClinVar Miner

List of variants in gene SLC26A4 reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.*350C>T rs17154362 0.01276
NM_000441.2(SLC26A4):c.*614C>T rs77315223 0.00874
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000441.2(SLC26A4):c.*1905G>A rs375630290 0.00558
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.*376A>G rs540093295 0.00535
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_000441.2(SLC26A4):c.*1123A>G rs141341508 0.00322
NM_000441.2(SLC26A4):c.*1059T>C rs183926745 0.00260
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_000441.2(SLC26A4):c.*200A>T rs112260663 0.00236
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) rs114473792 0.00116
NM_000441.2(SLC26A4):c.*1682C>T rs376138572 0.00110
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000441.2(SLC26A4):c.*791A>G rs146458433 0.00079
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000441.2(SLC26A4):c.*1836C>T rs565613619 0.00066
NM_000441.2(SLC26A4):c.*69C>A rs76894072 0.00061
NM_000441.2(SLC26A4):c.*523A>G rs560536749 0.00056
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000441.2(SLC26A4):c.*2047A>G rs534409544 0.00039
NM_000441.2(SLC26A4):c.*780T>C rs527503006 0.00038
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_000441.2(SLC26A4):c.*51T>C rs371263685 0.00034
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_000441.1(SLC26A4):c.-189A>T rs111033440 0.00031
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NM_000441.2(SLC26A4):c.*2093T>G rs542517353 0.00024
NM_000441.2(SLC26A4):c.*36C>T rs764382402 0.00023
NM_000441.2(SLC26A4):c.*618A>G rs886061888 0.00022
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.2236-15G>A rs372776461 0.00021
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_000441.1(SLC26A4):c.-139C>T rs879914861 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.*2237A>G rs562706485 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000441.2(SLC26A4):c.*1200G>A rs549659217 0.00015
NM_000441.2(SLC26A4):c.*409A>T rs752578836 0.00014
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000441.2(SLC26A4):c.*351G>A rs957299935 0.00011
NM_000441.2(SLC26A4):c.*1466T>A rs749750914 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.1(SLC26A4):c.-186A>G rs555307083 0.00005
NM_000441.2(SLC26A4):c.*16G>T rs761754267 0.00005
NM_000441.2(SLC26A4):c.1110A>G (p.Val370=) rs886061886 0.00005
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00005
NM_000441.2(SLC26A4):c.*1735C>T rs1003068818 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.*1068T>C rs1017422930 0.00003
NM_000441.2(SLC26A4):c.*1982C>A rs138245836 0.00003
NM_000441.2(SLC26A4):c.*2307A>G rs576278412 0.00003
NM_000441.2(SLC26A4):c.*343C>A rs139104953 0.00003
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp) rs1035397261 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_000441.2(SLC26A4):c.*120G>A rs776063556 0.00002
NM_000441.2(SLC26A4):c.*840C>T rs886061889 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala) rs745546618 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_000441.2(SLC26A4):c.*1277A>G rs560359006 0.00001
NM_000441.2(SLC26A4):c.*1517G>C rs2712205 0.00001
NM_000441.2(SLC26A4):c.*1960T>A rs886061893 0.00001
NM_000441.2(SLC26A4):c.*202G>A rs1005739547 0.00001
NM_000441.2(SLC26A4):c.*2065G>A rs1276655952 0.00001
NM_000441.2(SLC26A4):c.*2147G>A rs886061894 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519 0.00001
NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val) rs559273196 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) rs909072667 0.00001
NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val) rs1791982304 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn) rs1562818627 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His) rs147078785 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) rs765095794 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000441.1(SLC26A4):c.-40C>T rs1427132581
NM_000441.2(SLC26A4):c.*1558T>C rs1792362693
NM_000441.2(SLC26A4):c.*1563C>A rs943006929
NM_000441.2(SLC26A4):c.*1610C>T rs192222034
NM_000441.2(SLC26A4):c.*1640G>T rs886061891
NM_000441.2(SLC26A4):c.*1672G>A rs1006081417
NM_000441.2(SLC26A4):c.*1700A>T rs1184586296
NM_000441.2(SLC26A4):c.*1789G>A rs190337640
NM_000441.2(SLC26A4):c.*1868C>G rs1037624606
NM_000441.2(SLC26A4):c.*1875G>C rs886061892
NM_000441.2(SLC26A4):c.*1945G>A rs75194818
NM_000441.2(SLC26A4):c.*201C>A rs761988423
NM_000441.2(SLC26A4):c.*397T>C rs1792332700
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.164G>C (p.Ser55Thr)
NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met) rs908303704
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.190G>A (p.Val64Met) rs1790616677
NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr) rs747919826
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2236-6T>C rs1409309832
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr) rs1790885512
NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu) rs1790887971
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.540T>G (p.Ala180=) rs1790957218
NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val) rs2129311931
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala) rs775490005
NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) rs886061884

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