ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
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.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.5C>T (p.Ala2Val) rs587776498
m.1624C>T rs199476144
m.5537_5538insT rs199474672
m.8344A>G rs118192098

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