ClinVar Miner

List of variants in gene EARS2, GGA2 studied for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.*12T>G rs1468138 0.83903
NM_001083614.2(EARS2):c.*1594C>T rs9707 0.82452
NM_001083614.2(EARS2):c.*1443C>G rs6497669 0.81426
NM_001083614.2(EARS2):c.*2156T>G rs13334957 0.08431
NM_001083614.2(EARS2):c.*400A>G rs78770424 0.02484
NM_001083614.2(EARS2):c.*1498A>G rs113477773 0.01470
NM_001083614.2(EARS2):c.*1388C>T rs11864511 0.01468
NM_001083614.2(EARS2):c.*1327A>G rs72776116 0.01372
NM_001083614.2(EARS2):c.*2294T>C rs8046938 0.01163
NM_001083614.2(EARS2):c.*715G>A rs74014930 0.01133
NM_001083614.2(EARS2):c.*755C>T rs11647557 0.01076
NM_001083614.2(EARS2):c.*1362T>C rs7342735 0.00796
NM_001083614.2(EARS2):c.*1099A>G rs74014928 0.00787
NM_001083614.2(EARS2):c.*555G>A rs190982783 0.00465
NM_001083614.2(EARS2):c.*458C>T rs145856944 0.00379
NM_001083614.2(EARS2):c.*1138G>A rs10239 0.00188
NM_001083614.2(EARS2):c.*91C>T rs141499212 0.00148
NM_001083614.2(EARS2):c.*914T>A rs185800148 0.00142
NM_001083614.2(EARS2):c.*2309G>A rs368686039 0.00090
NM_001083614.2(EARS2):c.*1233C>T rs118168979 0.00072
NM_001083614.2(EARS2):c.*1647C>T rs139837269 0.00061
NM_001083614.2(EARS2):c.*917C>T rs756961049 0.00054
NM_001083614.2(EARS2):c.*1902A>C rs534093776 0.00048
NM_001083614.2(EARS2):c.*637A>G rs780830616 0.00048
NM_001083614.2(EARS2):c.*966G>C rs151312469 0.00046
NM_001083614.2(EARS2):c.*1408A>G rs571312854 0.00027
NM_001083614.2(EARS2):c.*1808G>A rs557923021 0.00027
NM_001083614.2(EARS2):c.*180A>G rs780381864 0.00014
NM_001083614.2(EARS2):c.*1809T>C rs886051825 0.00009
NM_001083614.2(EARS2):c.*1027G>A rs932873198 0.00008
NM_001083614.2(EARS2):c.*1904A>G rs1196221265 0.00004
NM_001083614.2(EARS2):c.*2193A>G rs567856922 0.00003
NM_001083614.2(EARS2):c.*713T>C rs886051828 0.00002
NM_001083614.2(EARS2):c.*2105C>G rs550393372 0.00001
NM_001083614.2(EARS2):c.*1082T>C rs1207271464
NM_001083614.2(EARS2):c.*1435C>A rs886051827
NM_001083614.2(EARS2):c.*155A>G rs886051830
NM_001083614.2(EARS2):c.*15G>C rs200936622
NM_001083614.2(EARS2):c.*1720G>A rs886051826
NM_001083614.2(EARS2):c.*824G>A rs566896041
NM_001083614.2(EARS2):c.*936T>C rs532554451

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