ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome

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Total variants: 37
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HGVS dbSNP
NC_012920.1:m.11621_11622del rs1603223363
NC_012920.1:m.13063G>A rs1603224017
NC_012920.1:m.4611del rs1603219523
NC_012920.1:m.6526T>C rs1603220522
NC_012920.1:m.8783G>A rs1603221804
NC_012920.1:m.8851T>C rs199476136
NC_012920.1:m.9049G>A rs1603222011
NC_012920.1:m.9134A>G rs1603222119
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)
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.183_186del (p.Leu62fs)
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) rs1564349087
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.752-1G>C rs1391748504
NM_003172.4(SURF1):c.759dup (p.Val254fs) rs1554768246
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) rs1588688823
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln) rs776114731
NM_005006.7(NDUFS1):c.1393-7_1393-3del rs1559047521
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg) rs747249702
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter) rs1591111808
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_024120.5(NDUFAF5):c.519+4A>G
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949
m.12706T>C rs267606893
m.14453G>A rs199476107

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