ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome by Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498

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