ClinVar Miner

List of variants in gene ESRRB reported as uncertain significance for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_004452.4(ESRRB):c.-324G>A rs79948698 0.01117
NM_001379180.1(ESRRB):c.*3347A>T rs151183297 0.00988
NM_004452.4(ESRRB):c.-236C>T rs181925962 0.00421
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001379180.1(ESRRB):c.*2382G>A rs190764707 0.00240
NM_001379180.1(ESRRB):c.1120+8C>T rs373429794 0.00226
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val) rs61760172 0.00161
NM_004452.4(ESRRB):c.-211A>G rs569344628 0.00131
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_004452.4(ESRRB):c.-292C>A rs143251786 0.00085
NM_001379180.1(ESRRB):c.*1527C>T rs370162922 0.00070
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_001379180.1(ESRRB):c.1207C>T (p.Arg403Cys) rs373131497 0.00064
NM_001379180.1(ESRRB):c.765G>A (p.Glu255=) rs79273904 0.00058
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_001379180.1(ESRRB):c.*3331C>T rs541309197 0.00033
NM_001379180.1(ESRRB):c.*2751C>T rs533160995 0.00029
NM_001379180.1(ESRRB):c.*3338C>T rs192712591 0.00025
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) rs201344770 0.00022
NM_001379180.1(ESRRB):c.*2373G>A rs186401013 0.00016
NM_001379180.1(ESRRB):c.1176C>T (p.His392=) rs370193367 0.00016
NM_001379180.1(ESRRB):c.*2287G>A rs372618689 0.00014
NM_001379180.1(ESRRB):c.*2926G>A rs767825224 0.00013
NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser) rs771730157 0.00013
NM_001379180.1(ESRRB):c.*2334G>A rs545818408 0.00012
NM_001379180.1(ESRRB):c.*2639C>G rs886050807 0.00010
NM_001379180.1(ESRRB):c.*3018G>C rs575642098 0.00010
NM_001379180.1(ESRRB):c.1027C>T (p.Arg343Trp) rs143118664 0.00008
NM_001379180.1(ESRRB):c.177G>A (p.Ser59=) rs781612689 0.00008
NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) rs528723972 0.00008
NM_001379180.1(ESRRB):c.*1556T>C rs180967093 0.00007
NM_001379180.1(ESRRB):c.689-10G>A rs534216019 0.00007
NM_001379180.1(ESRRB):c.*1604G>A rs371116651 0.00006
NM_001379180.1(ESRRB):c.*3220T>C rs376119931 0.00005
NM_001379180.1(ESRRB):c.577+15C>T rs765906060 0.00005
NM_001379180.1(ESRRB):c.*2912G>A rs886050808 0.00003
NM_001379180.1(ESRRB):c.*1502A>T rs752675221 0.00002
NM_001379180.1(ESRRB):c.*2867C>T rs554904120 0.00002
NM_001379180.1(ESRRB):c.*1398C>T rs755771149 0.00001
NM_001379180.1(ESRRB):c.*2702A>C rs1303057558 0.00001
NM_001379180.1(ESRRB):c.*2765A>G rs576730553 0.00001
NM_001379180.1(ESRRB):c.*2859T>A rs187244352 0.00001
NM_001379180.1(ESRRB):c.1119C>T (p.Ser373=) rs545480530 0.00001
NM_001379180.1(ESRRB):c.292G>A (p.Glu98Lys) rs1477346091 0.00001
NM_001379180.1(ESRRB):c.480C>T (p.Cys160=) rs886050805 0.00001
NM_004452.4(ESRRB):c.-300A>G rs556338868 0.00001
NM_001379180.1(ESRRB):c.*1519G>A rs1890600056
NM_001379180.1(ESRRB):c.*2721A>G rs1890645532
NM_001379180.1(ESRRB):c.*2945C>A rs886050809
NM_001379180.1(ESRRB):c.*2953C>T rs753110550
NM_001379180.1(ESRRB):c.*3372G>C rs886050812
NM_001379180.1(ESRRB):c.1236G>A (p.Lys412=) rs1890514228
NM_001379180.1(ESRRB):c.226G>A (p.Gly76Ser) rs373173218
NM_001379180.1(ESRRB):c.260G>A (p.Gly87Glu) rs1887826180
NM_001379180.1(ESRRB):c.50+27963T>C rs886050804
NM_001379180.1(ESRRB):c.50+27968G>A rs1886083225
NM_001379180.1(ESRRB):c.50+28005T>C rs953298160
NM_001379180.1(ESRRB):c.578-4A>G rs753495127
NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) rs886050806
NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) rs1595163029
NM_004452.4(ESRRB):c.-191T>C rs541720695
NM_004452.4(ESRRB):c.-369G>A rs111446027

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