ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.*350C>T rs17154362 0.01276
NM_002241.5(KCNJ10):c.*2242T>C rs115120891 0.00948
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_002241.5(KCNJ10):c.*2596A>G rs116418256 0.00551
NM_000441.2(SLC26A4):c.*376A>G rs540093295 0.00535
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_002241.5(KCNJ10):c.*1161T>C rs149832483 0.00464
NM_002241.5(KCNJ10):c.*266T>A rs144487288 0.00459
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) rs115399307 0.00376
NM_002241.5(KCNJ10):c.*2034C>T rs192835895 0.00345
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_000441.2(SLC26A4):c.*1123A>G rs141341508 0.00322
NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu) rs114293092 0.00289
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_002241.5(KCNJ10):c.*2479G>A rs142986779 0.00181
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_012188.5(FOXI1):c.30C>T (p.Ser10=) rs137901435 0.00166
NM_002241.5(KCNJ10):c.*1839C>T rs138511291 0.00159
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_002241.5(KCNJ10):c.*1435C>T rs150657925 0.00127
NM_002241.5(KCNJ10):c.*2148A>G rs75282171 0.00118
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_002241.5(KCNJ10):c.*3853G>C rs138599071 0.00112
NM_000441.2(SLC26A4):c.*1682C>T rs376138572 0.00110
NM_012188.5(FOXI1):c.822C>T (p.Gly274=) rs149203108 0.00105
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala) rs141924917 0.00082
NM_002241.5(KCNJ10):c.*21A>G rs377019389 0.00080
NM_000441.2(SLC26A4):c.*791A>G rs146458433 0.00079
NM_002241.5(KCNJ10):c.*362A>T rs528816212 0.00078
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553 0.00077
NM_002241.5(KCNJ10):c.*1789G>A rs542638955 0.00072
NM_000441.2(SLC26A4):c.*1836C>T rs565613619 0.00066
NM_002241.5(KCNJ10):c.*3130C>A rs558975322 0.00066
NM_002241.5(KCNJ10):c.*3737A>G rs535970310 0.00066
NM_002241.5(KCNJ10):c.*3919G>A rs141118901 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_000441.2(SLC26A4):c.*69C>A rs76894072 0.00061
NM_002241.5(KCNJ10):c.*2001T>C rs1000595958 0.00059
NM_002241.5(KCNJ10):c.*2827C>T rs183270733 0.00059
NM_000441.2(SLC26A4):c.*523A>G rs560536749 0.00056
NM_012188.5(FOXI1):c.*576T>A rs550861326 0.00054
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900 0.00054
NM_012188.5(FOXI1):c.*986G>C rs111876035 0.00053
NM_002241.5(KCNJ10):c.*3506C>T rs79012831 0.00052
NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr) rs377539902 0.00050
NM_000441.2(SLC26A4):c.*51T>C rs371263685 0.00045
NM_000441.2(SLC26A4):c.*618A>G rs886061888 0.00045
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp) rs138457635 0.00041
NM_002241.5(KCNJ10):c.*2490G>A rs190897143 0.00040
NM_000441.2(SLC26A4):c.*780T>C rs527503006 0.00038
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_002241.5(KCNJ10):c.*3158C>T rs777813628 0.00034
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser) rs145046338 0.00034
NM_000441.1(SLC26A4):c.-189A>T rs111033440 0.00031
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492 0.00031
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NM_002241.5(KCNJ10):c.*734C>T rs778432509 0.00029
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076 0.00026
NM_000441.2(SLC26A4):c.*2047A>G rs534409544 0.00025
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.*409A>T rs752578836 0.00022
NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile) rs201090454 0.00022
NM_000441.2(SLC26A4):c.2236-15G>A rs372776461 0.00021
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_002241.5(KCNJ10):c.*2649G>A rs886045399 0.00020
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742 0.00020
NM_002241.5(KCNJ10):c.*1788C>T rs550315680 0.00019
NM_002241.5(KCNJ10):c.*3170G>A rs886045395 0.00019
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
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_002241.5(KCNJ10):c.*3617A>T rs754184905 0.00016
NM_002241.5(KCNJ10):c.*73C>T rs184428585 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_000441.2(SLC26A4):c.*1200G>A rs549659217 0.00015
NM_000441.2(SLC26A4):c.*351G>A rs957299935 0.00011
NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr) rs375361490 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_002241.5(KCNJ10):c.*171C>T rs539110996 0.00010
NM_012188.5(FOXI1):c.*679C>T rs966422889 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_002241.5(KCNJ10):c.*2554G>A rs773976668 0.00008
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) rs751338154 0.00008
NM_012188.5(FOXI1):c.861C>G (p.Ala287=) rs145785746 0.00008
NM_002241.5(KCNJ10):c.*2520C>T rs886045401 0.00007
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) rs765590257 0.00007
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_002241.5(KCNJ10):c.*1653T>C rs886045407 0.00006
NM_002241.5(KCNJ10):c.*2754G>C rs1027968987 0.00006
NM_002241.5(KCNJ10):c.*3074C>T rs181875026 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_002241.5(KCNJ10):c.*2516C>T rs887195639 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 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.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg) rs372072732 0.00004
NM_002241.5(KCNJ10):c.*1165G>A rs886045408 0.00004
NM_002241.5(KCNJ10):c.*2373C>T rs117037263 0.00004
NM_002241.5(KCNJ10):c.*868C>T rs753707600 0.00004
NM_002241.5(KCNJ10):c.*991A>G rs187278337 0.00004
NM_012188.5(FOXI1):c.*418T>C rs886060402 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.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_002241.5(KCNJ10):c.*1855T>C rs886045405 0.00003
NM_002241.5(KCNJ10):c.*3180G>C rs758537153 0.00003
NM_002241.5(KCNJ10):c.*347C>T rs777312868 0.00003
NM_002241.5(KCNJ10):c.*3770C>T rs886045394 0.00003
NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) rs772882906 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.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_002241.5(KCNJ10):c.*2406T>C rs771363724 0.00002
NM_002241.5(KCNJ10):c.*2624G>A rs745675740 0.00002
NM_002241.5(KCNJ10):c.*680T>G rs886045411 0.00002
NM_012188.5(FOXI1):c.*74G>A rs1235816008 0.00002
NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) rs755810719 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.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.278G>A (p.Ser93Asn) rs1562818627 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) rs765095794 0.00001
NM_002241.5(KCNJ10):c.*237A>G rs886045412 0.00001
NM_002241.5(KCNJ10):c.*3104T>A rs376496371 0.00001
NM_002241.5(KCNJ10):c.*3458G>A rs543628318 0.00001
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) rs750227861 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_012188.5(FOXI1):c.*248G>A rs1758583401 0.00001
NM_012188.5(FOXI1):c.*397A>T rs886060401 0.00001
NM_012188.5(FOXI1):c.*486C>T rs886060403 0.00001
NM_012188.5(FOXI1):c.-18G>A rs764490860 0.00001
NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly) rs1417785705 0.00001
NM_012188.5(FOXI1):c.63C>T (p.Ile21=) rs768858662 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.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.190G>A (p.Val64Met) rs1790616677
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) rs772522003
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2236-6T>C rs1409309832
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.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.540T>G (p.Ala180=) rs1790957218
NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) rs886061884
NM_002241.5(KCNJ10):c.*1048A>T rs1648573456
NM_002241.5(KCNJ10):c.*1258G>A rs139904051
NM_002241.5(KCNJ10):c.*1809C>T rs781009174
NM_002241.5(KCNJ10):c.*1827T>C rs886045406
NM_002241.5(KCNJ10):c.*2394T>C rs116235450
NM_002241.5(KCNJ10):c.*2896T>C rs1648528740
NM_002241.5(KCNJ10):c.*2971G>A rs886045397
NM_002241.5(KCNJ10):c.*3023T>C rs886045396
NM_002241.5(KCNJ10):c.*3840T>C rs886045393
NM_002241.5(KCNJ10):c.*729G>C rs886045410
NM_002241.5(KCNJ10):c.*793C>A rs560891462
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) rs540341763
NM_012188.5(FOXI1):c.*1094T>C rs1758609305
NM_012188.5(FOXI1):c.*176G>T rs151161274
NM_012188.5(FOXI1):c.*285A>G rs1758584609
NM_012188.5(FOXI1):c.*707C>T rs886060404
NM_012188.5(FOXI1):c.*815C>T rs550211890
NM_012188.5(FOXI1):c.*840G>T rs1758600627
NM_012188.5(FOXI1):c.1004G>A (p.Gly335Asp) rs764345848
NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu) rs749433068
NM_012188.5(FOXI1):c.528G>A (p.Ser176=) rs373094576
NM_012188.5(FOXI1):c.568G>C (p.Asp190His) rs886060398
NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu) rs886060399
NM_012188.5(FOXI1):c.972G>C (p.Pro324=) rs56128152

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