ClinVar Miner

List of variants reported as uncertain significance for Pendred syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
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HGVS dbSNP
NM_000441.1(SLC26A4):c.-139C>T rs879914861
NM_000441.1(SLC26A4):c.-186A>G rs555307083
NM_000441.1(SLC26A4):c.1438-7delT rs753586849
NM_000441.1(SLC26A4):c.1438-7dup rs753586849
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493
NM_000441.2(SLC26A4):c.*1059T>C rs183926745
NM_000441.2(SLC26A4):c.*1123A>G rs141341508
NM_000441.2(SLC26A4):c.*1200G>A rs549659217
NM_000441.2(SLC26A4):c.*1277A>G rs560359006
NM_000441.2(SLC26A4):c.*1517G>C rs2712205
NM_000441.2(SLC26A4):c.*1584dup rs886061890
NM_000441.2(SLC26A4):c.*1610C>T rs192222034
NM_000441.2(SLC26A4):c.*1640G>T rs886061891
NM_000441.2(SLC26A4):c.*1875G>C rs886061892
NM_000441.2(SLC26A4):c.*1960T>A rs886061893
NM_000441.2(SLC26A4):c.*2047A>G rs534409544
NM_000441.2(SLC26A4):c.*2147G>A rs886061894
NM_000441.2(SLC26A4):c.*2250_*2251del rs886061895
NM_000441.2(SLC26A4):c.*239C>T rs113516368
NM_000441.2(SLC26A4):c.*343C>A rs139104953
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.-103T>C rs60284988
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001+5G>T rs780131226
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993
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.1110A>G (p.Val370=) rs886061886
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527
NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg) rs1376210516
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042
NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup) rs1554359598
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1341+3A>C rs1216900843
NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr) rs1554359686
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286
NM_000441.2(SLC26A4):c.1437+2dup rs1554359702
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro) rs1554352291
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp) rs1554359973
NM_000441.2(SLC26A4):c.1546C>T (p.Pro516Ser) rs753960052
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.165-13T>G rs774685849
NM_000441.2(SLC26A4):c.165-3C>G rs1436250461
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556
NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala) rs1554361015
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131
NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg) rs1554361031
NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val) rs371998143
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2034G>A (p.Val678=) rs1048663788
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413
NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro) rs981410021
NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) rs147733656
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2132_2134ACA[1] (p.Asn712del) rs1554362748
NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) rs772522003
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249
NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=) rs1387758666
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337
NM_000441.2(SLC26A4):c.2263del (p.Thr755fs) rs1554363275
NM_000441.2(SLC26A4):c.2281_2286del (p.Thr761_Glu762del) rs1554363304
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240
NM_000441.2(SLC26A4):c.2320-1G>A rs1554363892
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034
NM_000441.2(SLC26A4):c.2320-4A>C rs727503432
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874
NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr) rs532132864
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883
NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg) rs1554354367
NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile) rs1554354370
NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly) rs751256128
NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro) rs1554354382
NM_000441.2(SLC26A4):c.415+4A>G rs368280107
NM_000441.2(SLC26A4):c.415+5_415+10del rs766751379
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326
NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) rs200229408
NM_000441.2(SLC26A4):c.501_502insCAA (p.Gly168_Thr169insGln) rs758521444
NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del) rs1554352212
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670
NM_000441.2(SLC26A4):c.601-5C>T rs546450643
NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala) rs1434359940
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431
NM_000441.2(SLC26A4):c.765+4A>C rs774353111
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240
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.890C>A (p.Pro297Gln) rs867212046
NM_000441.2(SLC26A4):c.919-18T>G rs767147359
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265
NM_002241.4(KCNJ10):c.-168C>A rs886045413
NM_002241.4(KCNJ10):c.-183C>T rs374287142
NM_002241.5(KCNJ10):c.*1161T>C rs149832483
NM_002241.5(KCNJ10):c.*1165G>A rs886045408
NM_002241.5(KCNJ10):c.*1435C>T rs150657925
NM_002241.5(KCNJ10):c.*1653T>C rs886045407
NM_002241.5(KCNJ10):c.*171C>T rs539110996
NM_002241.5(KCNJ10):c.*1788C>T rs550315680
NM_002241.5(KCNJ10):c.*1827T>C rs886045406
NM_002241.5(KCNJ10):c.*1839C>T rs138511291
NM_002241.5(KCNJ10):c.*1855T>C rs886045405
NM_002241.5(KCNJ10):c.*1970_*1971GT[21] rs56656397
NM_002241.5(KCNJ10):c.*1970_*1971GT[22] rs56656397
NM_002241.5(KCNJ10):c.*1970_*1971GT[24] rs56656397
NM_002241.5(KCNJ10):c.*1970_*1971GT[27] rs56656397
NM_002241.5(KCNJ10):c.*1970_*1971GT[28] rs56656397
NM_002241.5(KCNJ10):c.*21A>G rs377019389
NM_002241.5(KCNJ10):c.*2373C>T rs117037263
NM_002241.5(KCNJ10):c.*237A>G rs886045412
NM_002241.5(KCNJ10):c.*2394T>C rs116235450
NM_002241.5(KCNJ10):c.*2459T>G rs532869749
NM_002241.5(KCNJ10):c.*2479G>A rs142986779
NM_002241.5(KCNJ10):c.*2490G>A rs190897143
NM_002241.5(KCNJ10):c.*2520C>T rs886045401
NM_002241.5(KCNJ10):c.*2530G>C rs886045400
NM_002241.5(KCNJ10):c.*2596A>G rs116418256
NM_002241.5(KCNJ10):c.*2649G>A rs886045399
NM_002241.5(KCNJ10):c.*2675_*2676del rs886045398
NM_002241.5(KCNJ10):c.*2827C>T rs183270733
NM_002241.5(KCNJ10):c.*2971G>A rs886045397
NM_002241.5(KCNJ10):c.*3023T>C rs886045396
NM_002241.5(KCNJ10):c.*3074C>T rs181875026
NM_002241.5(KCNJ10):c.*3104T>A rs376496371
NM_002241.5(KCNJ10):c.*3170G>A rs886045395
NM_002241.5(KCNJ10):c.*3180G>C rs758537153
NM_002241.5(KCNJ10):c.*3506C>T rs79012831
NM_002241.5(KCNJ10):c.*3617A>T rs754184905
NM_002241.5(KCNJ10):c.*362A>T rs528816212
NM_002241.5(KCNJ10):c.*3770C>T rs886045394
NM_002241.5(KCNJ10):c.*3840T>C rs886045393
NM_002241.5(KCNJ10):c.*3853G>C rs138599071
NM_002241.5(KCNJ10):c.*52G>A rs148441646
NM_002241.5(KCNJ10):c.*680T>G rs886045411
NM_002241.5(KCNJ10):c.*729G>C rs886045410
NM_002241.5(KCNJ10):c.*734C>T rs778432509
NM_002241.5(KCNJ10):c.*73C>T rs184428585
NM_002241.5(KCNJ10):c.*783A>G rs886045409
NM_002241.5(KCNJ10):c.*991A>G rs187278337
NM_002241.5(KCNJ10):c.-43G>A rs372841245
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) rs751338154
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) rs540341763
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) rs765590257
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296
NM_012188.5(FOXI1):c.*176G>T rs151161274
NM_012188.5(FOXI1):c.*397A>T rs886060401
NM_012188.5(FOXI1):c.*418T>C rs886060402
NM_012188.5(FOXI1):c.*486C>T rs886060403
NM_012188.5(FOXI1):c.*576T>A rs550861326
NM_012188.5(FOXI1):c.*707C>T rs886060404
NM_012188.5(FOXI1):c.*986G>C rs111876035
NM_012188.5(FOXI1):c.-18G>A rs764490860
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076
NM_012188.5(FOXI1):c.30C>T (p.Ser10=) rs137901435
NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu) rs114293092
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553
NM_012188.5(FOXI1):c.568G>C (p.Asp190His) rs886060398
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340
NM_012188.5(FOXI1):c.822C>T (p.Gly274=) rs149203108
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900
NM_012188.5(FOXI1):c.861C>G (p.Ala287=) rs145785746
NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu) rs886060399
NM_012188.5(FOXI1):c.965_967del (p.Phe322del) rs886060400
NM_012188.5(FOXI1):c.972G>C (p.Pro324=) rs56128152
NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser) rs145046338

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