ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome

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Total variants: 15
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HGVS dbSNP
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu) rs764276946
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) rs1267554976
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) rs782007828
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) rs1564349087
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.759dup (p.Val254fs) rs1554768246
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498
NM_004376.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949

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