ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 63

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001145308.4(LRTOMT):c.-885C>T rs116038324 0.00480
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_001145308.5(LRTOMT):c.*1810A>T rs142914900 0.00418
NM_001145308.5(LRTOMT):c.352G>A (p.Val118Ile) rs181092713 0.00416
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474 0.00178
NM_001145308.5(LRTOMT):c.-254G>T rs144139038 0.00106
NM_001145308.5(LRTOMT):c.*437T>C rs766985557 0.00054
NM_001145308.5(LRTOMT):c.-123T>C rs369105155 0.00034
NM_001145308.5(LRTOMT):c.*1363C>A rs759367241 0.00031
NM_001145308.5(LRTOMT):c.585C>T (p.Asp195=) rs373088272 0.00022
NM_001145308.4(LRTOMT):c.-762C>A rs185830107 0.00021
NM_001145308.5(LRTOMT):c.*851G>A rs186960319 0.00021
NM_001145308.5(LRTOMT):c.649C>T (p.Arg217Trp) rs72953778 0.00016
NM_001145308.5(LRTOMT):c.802C>T (p.His268Tyr) rs570166217 0.00016
NM_014042.3(ANAPC15):c.296C>T (p.Pro99Leu) rs531848254 0.00016
NM_001145308.5(LRTOMT):c.*1544A>G rs912805774 0.00014
NM_001145308.5(LRTOMT):c.-322+5G>A rs767961368 0.00014
NM_001145308.5(LRTOMT):c.209G>A (p.Arg70Gln) rs188715129 0.00014
NM_001145308.5(LRTOMT):c.*1160T>C rs201099496 0.00010
NM_001145308.5(LRTOMT):c.650G>A (p.Arg217Gln) rs372524977 0.00009
NM_001145308.5(LRTOMT):c.784C>T (p.Arg262Cys) rs886048634 0.00008
NM_001145308.4(LRTOMT):c.-705A>G rs886048621 0.00007
NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=) rs397516626 0.00006
NM_001145308.4(LRTOMT):c.-554G>A rs886048622 0.00005
NM_001145308.5(LRTOMT):c.276C>T (p.Pro92=) rs886048629 0.00005
NM_001145308.4(LRTOMT):c.-422T>C rs1042068599 0.00004
NM_001145308.4(LRTOMT):c.-453A>G rs1450426179 0.00004
NM_001145308.5(LRTOMT):c.*1116G>A rs375298971 0.00004
NM_001145308.5(LRTOMT):c.-344G>A rs886048626 0.00004
NM_001145308.5(LRTOMT):c.-57G>A rs145488053 0.00004
NM_001145308.5(LRTOMT):c.189G>A (p.Thr63=) rs556093010 0.00004
NM_001145308.5(LRTOMT):c.568G>A (p.Val190Met) rs886048631 0.00004
NM_001145308.5(LRTOMT):c.754C>T (p.Arg252Cys) rs370168246 0.00004
NM_001145308.5(LRTOMT):c.797G>A (p.Arg266His) rs776760828 0.00004
NM_001145308.4(LRTOMT):c.-379T>C rs886048625 0.00003
NM_001145308.5(LRTOMT):c.*580C>T rs1416416166 0.00003
NM_001145308.5(LRTOMT):c.780T>G (p.Cys260Trp) rs886048633 0.00003
NM_001145308.5(LRTOMT):c.*400C>A rs956514341 0.00002
NM_001145308.5(LRTOMT):c.*638C>T rs1217502070 0.00002
NM_001145308.5(LRTOMT):c.-305G>A rs886048627 0.00002
NM_001145308.5(LRTOMT):c.503C>T (p.Thr168Met) rs537610140 0.00002
NM_001145308.5(LRTOMT):c.*1225T>A rs1469899576 0.00001
NM_001145308.5(LRTOMT):c.*1608G>C rs769123440 0.00001
NM_001145308.5(LRTOMT):c.*336C>T rs886048638 0.00001
NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp) rs1372399805 0.00001
NM_001145308.5(LRTOMT):c.161G>A (p.Arg54Gln) rs764268350 0.00001
NM_001145308.5(LRTOMT):c.172C>T (p.Arg58Ter) rs1298804148 0.00001
NM_001145308.5(LRTOMT):c.196C>G (p.Leu66Val) rs876657864 0.00001
NM_001145308.5(LRTOMT):c.373C>T (p.Arg125Trp) rs762128762 0.00001
NM_001145308.5(LRTOMT):c.499C>T (p.Arg167Cys) rs1038978268 0.00001
NM_001145308.5(LRTOMT):c.538G>A (p.Gly180Ser) rs529549122 0.00001
NM_145309.6(LRTOMT):c.230A>G (p.His77Arg) rs1382614042 0.00001
NM_001145308.4(LRTOMT):c.-409G>A rs886048624
NM_001145308.4(LRTOMT):c.-481G>T rs886048623
NM_001145308.4(LRTOMT):c.-703C>G rs918454674
NM_001145308.4(LRTOMT):c.-725T>G rs990462302
NM_001145308.4(LRTOMT):c.-761C>T rs1944076918
NM_001145308.4(LRTOMT):c.-816C>T rs535003776
NM_001145308.5(LRTOMT):c.*1488T>G rs932792064
NM_001145308.5(LRTOMT):c.*1773C>T rs561162900
NM_001145308.5(LRTOMT):c.*1788C>G rs886048640
NM_001145308.5(LRTOMT):c.*205C>T rs1946063829
NM_001145308.5(LRTOMT):c.*244C>A rs538247137
NM_001145308.5(LRTOMT):c.*601A>C rs116397624
NM_001145308.5(LRTOMT):c.*622C>T rs776032348
NM_001145308.5(LRTOMT):c.*860G>A rs1946187692
NM_001145308.5(LRTOMT):c.-322+1G>T rs1565309133
NM_001145308.5(LRTOMT):c.179T>C (p.Leu60Pro)
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_001145308.5(LRTOMT):c.459G>A (p.Leu153=) rs886048630
NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala) rs1288510412
NM_001145308.5(LRTOMT):c.592C>T (p.Pro198Ser) rs886048632
NM_001145308.5(LRTOMT):c.860A>G (p.Tyr287Cys) rs886048635
NM_001145308.5(LRTOMT):c.872G>A (p.Gly291Asp) rs886048636
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413

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