ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 24 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002906.4(RDX):c.*885G>A rs142279957 0.00999
NM_002906.4(RDX):c.1059A>G (p.Gln353=) rs139953187 0.00677
NM_002906.4(RDX):c.*1083G>A rs114509945 0.00627
NM_002906.4(RDX):c.*79A>C rs55953813 0.00607
NM_002906.4(RDX):c.-149C>T rs575111883 0.00511
NM_002906.4(RDX):c.*429G>A rs146390813 0.00444
NM_002906.4(RDX):c.*156A>G rs186249296 0.00290
NM_002906.4(RDX):c.*1955A>G rs138942667 0.00268
NM_002906.4(RDX):c.-169C>T rs371468276 0.00215
NM_002906.4(RDX):c.*1251A>C rs541339386 0.00189
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_002906.4(RDX):c.*1313G>C rs189484152 0.00137
NM_002906.4(RDX):c.*1368A>C rs540576204 0.00092
NM_002906.4(RDX):c.*2006A>G rs538806036 0.00070
NM_002906.3(RDX):c.-272A>T rs998609007 0.00069
NM_002906.4(RDX):c.*2085A>C rs747342832 0.00044
NM_002906.4(RDX):c.*1961G>A rs746061486 0.00041
NM_002906.4(RDX):c.-91G>A rs140928713 0.00038
NM_002906.4(RDX):c.1345-7T>C rs142161673 0.00034
NM_002906.4(RDX):c.*1201A>G rs181866368 0.00031
NM_002906.4(RDX):c.*740C>T rs558073403 0.00025
NM_002906.3(RDX):c.-305G>T rs886047657 0.00018
NM_002906.4(RDX):c.*1290A>G rs867786685 0.00018
NM_002906.4(RDX):c.1049G>A (p.Arg350His) rs377016439 0.00017
NM_002906.3(RDX):c.-290C>A rs886047655 0.00012
NM_002906.4(RDX):c.-133C>T rs553369693 0.00012
NM_002906.4(RDX):c.6G>A (p.Pro2=) rs202177331 0.00011
NM_002906.4(RDX):c.*2253C>T rs1264792297 0.00009
NM_002906.4(RDX):c.602A>G (p.Tyr201Cys) rs146019940 0.00009
NM_002906.4(RDX):c.1530C>T (p.Ser510=) rs192239366 0.00008
NM_002906.3(RDX):c.-285A>G rs969963231 0.00007
NM_002906.4(RDX):c.-179C>T rs886047653 0.00007
NM_002906.4(RDX):c.*1173A>G rs753716470 0.00006
NM_002906.4(RDX):c.*1579A>G rs772084374 0.00006
NM_002906.4(RDX):c.-76C>T rs886047652 0.00006
NM_002906.4(RDX):c.1251+14T>G rs376397960 0.00006
NM_002906.4(RDX):c.698+14T>C rs367814331 0.00006
NM_002906.4(RDX):c.*1284G>A rs74676538 0.00005
NM_002906.4(RDX):c.*2112A>G rs568502944 0.00005
NM_002906.3(RDX):c.-221C>A rs886047654 0.00004
NM_002906.3(RDX):c.-291G>A rs1391986749 0.00004
NM_002906.4(RDX):c.*1358C>T rs766075876 0.00004
NM_002906.4(RDX):c.*855T>C rs752002973 0.00003
NM_002906.4(RDX):c.*1058G>A rs886047643 0.00001
NM_002906.4(RDX):c.*1143G>A rs1285328999 0.00001
NM_002906.4(RDX):c.*1215G>A rs1342774754 0.00001
NM_002906.4(RDX):c.*1536T>C rs1864574922 0.00001
NM_002906.4(RDX):c.*2057T>C rs886047633 0.00001
NM_002906.4(RDX):c.*2070A>G rs1342838556 0.00001
NM_002906.4(RDX):c.*302C>T rs181457865 0.00001
NM_002906.4(RDX):c.*463A>G rs886047645 0.00001
NM_002906.4(RDX):c.-65+12C>T rs886047651 0.00001
NM_002906.4(RDX):c.507A>G (p.Glu169=) rs886047648 0.00001
NM_002906.3(RDX):c.-240C>G rs1861484920
NM_002906.3(RDX):c.-270G>C rs901152179
NM_002906.3(RDX):c.-297C>T rs886047656
NM_002906.3(RDX):c.-309T>G rs886047658
NM_002906.4(RDX):c.*1264G>C rs1864594208
NM_002906.4(RDX):c.*1383G>A rs1864581263
NM_002906.4(RDX):c.*1632A>G rs1864570060
NM_002906.4(RDX):c.*1898A>G rs539282888
NM_002906.4(RDX):c.*2423C>T rs886047632
NM_002906.4(RDX):c.*414A>T rs1864632139
NM_002906.4(RDX):c.*474A>G rs1864629375
NM_002906.4(RDX):c.*762C>A rs1319399412
NM_002906.4(RDX):c.*800C>T rs886047644
NM_002906.4(RDX):c.1162C>A (p.Arg388=) rs754563690
NM_002906.4(RDX):c.1188T>C (p.Ala396=) rs886047647
NM_002906.4(RDX):c.1195G>A (p.Ala399Thr) rs886047646
NM_002906.4(RDX):c.1411C>G (p.Pro471Ala) rs138560358
NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) rs1864714177
NM_002906.4(RDX):c.1504A>G (p.Asn502Asp) rs140180881
NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) rs199573785
NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) rs1864709166
NM_002906.4(RDX):c.301C>T (p.Leu101Phe) rs770252893
NM_002906.4(RDX):c.354G>T (p.Pro118=) rs144543614
NM_002906.4(RDX):c.573C>A (p.Tyr191Ter) rs139960434
NM_002906.4(RDX):c.836G>T (p.Arg279Leu) rs150863373
NM_002906.4(RDX):c.910C>T (p.Gln304Ter) rs893826250

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.