ClinVar Miner

List of variants reported as uncertain significance for Pendred syndrome by Illumina Laboratory Services, Illumina

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Total variants: 112
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HGVS dbSNP gnomAD frequency
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.*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.*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.*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_000441.2(SLC26A4):c.*51T>C rs371263685 0.00045
NM_000441.2(SLC26A4):c.*618A>G rs886061888 0.00045
NM_000441.2(SLC26A4):c.*780T>C rs527503006 0.00038
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.872G>A (p.Arg291Gln) rs138816005 0.00029
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_000441.2(SLC26A4):c.1544+9C>T rs368970459 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.*1200G>A rs549659217 0.00015
NM_000441.2(SLC26A4):c.*1584dup rs886061890 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.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_002241.5(KCNJ10):c.*52G>A rs148441646 0.00007
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_002241.5(KCNJ10):c.*783A>G rs886045409 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.*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_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.*2675_*2676del rs886045398 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_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.*2530G>C rs886045400 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.*2250_*2251del rs886061895
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.2320-4A>G rs727503432
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.*1970GT[21] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[22] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[24] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[27] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[28] rs56656397
NM_002241.5(KCNJ10):c.*2459T>G rs532869749
NM_012188.5(FOXI1):c.965_967del (p.Phe322del) rs886060400

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