ClinVar Miner

List of variants in gene NDUFS8 reported as uncertain significance for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_002496.4(NDUFS8):c.*26T>G rs886048592
NM_002496.4(NDUFS8):c.*44C>T rs201815115
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259
NM_002496.4(NDUFS8):c.199+5G>A rs373522607
NM_002496.4(NDUFS8):c.200-14C>T rs373128833
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) rs1277027467
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938
NM_002496.4(NDUFS8):c.501+12C>G rs372004236
NM_002496.4(NDUFS8):c.502-10C>T rs369961682
NM_002496.4(NDUFS8):c.502-13C>T rs199793417
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258

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