ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) rs1267554976
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499

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