ClinVar Miner

List of variants in gene ECHS1 reported as pathogenic for obsolete Leigh syndrome with leukodystrophy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_004092.4(ECHS1):c.161G>A (p.Arg54His) rs375266808 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val) rs200584793 0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080 0.00002
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375 0.00001
NC_000010.10:g.(?_135175966)_(135180498_135182426)del
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004092.4(ECHS1):c.202G>A (p.Glu68Lys)
NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln) rs1426014295
NM_004092.4(ECHS1):c.250G>A (p.Ala84Thr) rs2133443188
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004092.4(ECHS1):c.413C>T (p.Ala138Val) rs864309656
NM_004092.4(ECHS1):c.414+3G>C rs786204002
NM_004092.4(ECHS1):c.467A>G (p.Glu156Gly) rs1849069405
NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp) rs786204001
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val) rs1164154836
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)
NM_004092.4(ECHS1):c.673T>C (p.Cys225Arg)
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs) rs1554885530

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