ClinVar Miner

List of variants in gene KCNJ10 studied for Pendred syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP
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.*1764T>G rs2486253
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[23] 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.*2040C>G rs2486254
NM_002241.5(KCNJ10):c.*2062T>G rs1053074
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.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

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.