ClinVar Miner

List of variants studied for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome by Illumina Laboratory Services, Illumina

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.1369A>G (p.Ser457Gly) rs6497671 0.84008
NM_001083614.2(EARS2):c.606C>G (p.Val202=) rs2073951 0.83916
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.264G>A (p.Ala88=) rs7187920 0.72546
NM_001083614.2(EARS2):c.1068-5C>T rs2072061 0.72406
NM_001083614.2(EARS2):c.*2156T>G rs13334957 0.08431
NM_001083614.2(EARS2):c.984G>A (p.Pro328=) rs77939239 0.02510
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.1412A>C (p.Lys471Thr) rs137973249 0.00954
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.402C>T (p.Thr134=) rs116657756 0.00624
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
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.1317G>A (p.Ser439=) rs74014932 0.00173
NM_001083614.2(EARS2):c.813C>T (p.Phe271=) rs149664520 0.00162
NM_001083614.2(EARS2):c.*91C>T rs141499212 0.00148
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_001083614.2(EARS2):c.*914T>A rs185800148 0.00142
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) rs201929423 0.00118
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_019116.1(UBFD1):c.307G>C (p.Ala103Pro) rs371224231 0.00058
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.580G>A (p.Val194Met) rs76634881 0.00040
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.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001083614.2(EARS2):c.873C>T (p.Asp291=) rs61742045 0.00019
NM_001083614.2(EARS2):c.*180A>G rs780381864 0.00014
NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys) rs746838793 0.00013
NM_001083614.2(EARS2):c.351A>G (p.Gln117=) rs375906347 0.00011
NM_001083614.2(EARS2):c.1489-14C>T rs369770210 0.00010
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.246C>T (p.Arg82=) rs531061994 0.00007
NM_001083614.1(EARS2):c.-19G>A rs377067442 0.00006
NM_001083614.2(EARS2):c.1488+15C>T rs201607271 0.00006
NM_001083614.2(EARS2):c.*1904A>G rs1196221265 0.00004
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) rs746087016 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.1071G>A (p.Leu357=) rs769677259 0.00002
NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val) rs201181229 0.00002
NM_001083614.2(EARS2):c.403G>A (p.Gly135Arg) rs762685823 0.00002
NM_001083614.2(EARS2):c.851A>G (p.Lys284Arg) rs760964412 0.00002
NM_001083614.2(EARS2):c.*2105C>G rs550393372 0.00001
NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys) rs571483034 0.00001
NM_001083614.2(EARS2):c.1491A>G (p.Gln497=) rs745678462 0.00001
NM_001083614.2(EARS2):c.197A>T (p.Lys66Met) rs779972107 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
NM_001083614.2(EARS2):c.102G>T (p.Gly34=) rs1597032670
NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg) rs774269217
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) rs201941745
NM_001083614.2(EARS2):c.263C>T (p.Ala88Val) rs201929423
NM_001083614.2(EARS2):c.874G>A (p.Val292Ile) rs199575087
NM_001083614.2(EARS2):c.959-15C>T rs554499460
NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro) rs1366954580

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