ClinVar Miner

List of variants in gene ECHS1 studied for Leigh syndrome

Included ClinVar conditions (9):
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Total variants: 20
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HGVS dbSNP
NC_000010.10:g.(?_135175966)_(135180498_135182426)del
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) rs758723288
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871
NM_004092.4(ECHS1):c.413C>T (p.Ala138Val) rs864309656
NM_004092.4(ECHS1):c.414+3G>C rs786204002
NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp) rs786204001
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys) rs754609693
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499
NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro) rs1554886769
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) rs775650144
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) rs1554885535
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs) rs1554885530
NM_004092.4(ECHS1):c.88+5G>A rs761464256

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