ClinVar Miner

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

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Total variants: 76
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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.1352+25G>A rs2072062 0.73904
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.1488+34G>A rs75133940 0.06846
NM_001083614.2(EARS2):c.984G>A (p.Pro328=) rs77939239 0.02510
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr) rs137973249 0.00954
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.1317G>A (p.Ser439=) rs74014932 0.00173
NM_001083614.2(EARS2):c.813C>T (p.Phe271=) rs149664520 0.00162
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) rs201929423 0.00118
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_001083614.1(EARS2):c.-34C>G rs371224231 0.00058
NM_001083614.2(EARS2):c.580G>A (p.Val194Met) rs76634881 0.00040
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
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.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.164G>A (p.Arg55His) rs770862902 0.00010
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
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.1081C>T (p.Arg361Trp) rs761350541 0.00006
NM_001083614.2(EARS2):c.1488+15C>T rs201607271 0.00006
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) rs746087016 0.00004
NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn) rs763888954 0.00003
NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys) rs201848368 0.00003
NM_001083614.2(EARS2):c.1071G>A (p.Leu357=) rs769677259 0.00002
NM_001083614.2(EARS2):c.1234C>T (p.Arg412Cys) rs549058278 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.913G>A (p.Asp305Asn) rs368574794 0.00002
NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys) rs571483034 0.00001
NM_001083614.2(EARS2):c.1235G>A (p.Arg412His) rs753827689 0.00001
NM_001083614.2(EARS2):c.1491A>G (p.Gln497=) rs745678462 0.00001
NM_001083614.2(EARS2):c.193A>G (p.Lys65Glu) rs397514595 0.00001
NM_001083614.2(EARS2):c.197A>T (p.Lys66Met) rs779972107 0.00001
NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys) rs1355685453 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro) rs749048646 0.00001
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs) rs767857970 0.00001
NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr) rs397514594 0.00001
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser) rs397514592 0.00001
NM_001083614.2(EARS2):c.1015G>T (p.Val339Phe)
NM_001083614.2(EARS2):c.1283del (p.Pro428fs) rs1965287605
NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg) rs767133394
NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg) rs774269217
NM_001083614.2(EARS2):c.1465C>T (p.Arg489Trp)
NM_001083614.2(EARS2):c.1488+16G>A
NM_001083614.2(EARS2):c.1488+61del
NM_001083614.2(EARS2):c.1A>G (p.Met1Val)
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) rs201941745
NM_001083614.2(EARS2):c.212del (p.Phe71fs) rs778413603
NM_001083614.2(EARS2):c.236A>T (p.Asp79Val)
NM_001083614.2(EARS2):c.263C>T (p.Ala88Val) rs201929423
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys) rs397514593
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)
NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter)
NM_001083614.2(EARS2):c.428C>G (p.Ser143Ter)
NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter)
NM_001083614.2(EARS2):c.569G>A (p.Arg190His) rs533072942
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter) rs1445826036
NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln) rs1965392345
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val) rs1555503379
NM_001083614.2(EARS2):c.874G>A (p.Val292Ile) rs199575087
NM_001083614.2(EARS2):c.947C>G (p.Ser316Ter)
NM_001083614.2(EARS2):c.959-15C>T rs554499460
NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro) rs1366954580
NM_001083614.2(EARS2):c.[1279_1280insTCC;502A>G]

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