ClinVar Miner

List of variants reported as uncertain significance for Leigh syndrome by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) rs1277027467
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_004168.3(SDHA):c.1794+105dup rs1561011159
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162

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