ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP
NM_000441.1(SLC26A4):c.-139C>T rs879914861
NM_000441.1(SLC26A4):c.-186A>G rs555307083
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.*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.-8G>A rs886061882
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.2008G>A (p.Val670Ile) rs201689637
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.2291C>T (p.Thr764Met) rs150597240
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883
NM_000441.2(SLC26A4):c.601-5C>T rs546450643
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005
NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) rs886061884
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) rs765095794
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.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.530A>G (p.Glu177Gly) rs145947380
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.