List of variants reported as benign for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

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Total variants: 24

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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.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.*2156T>G	rs13334957	0.08431
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.*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.*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.*1233C>T	rs118168979	0.00072
NM_001083614.2(EARS2):c.580G>A (p.Val194Met)	rs76634881	0.00040

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