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
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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_002906.4(RDX):c.1049G>A (p.Arg350His) rs377016439 0.00022
NM_002906.3(RDX):c.-305G>T rs886047657 0.00018
NM_002906.4(RDX):c.*1290A>G rs867786685 0.00018
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

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