ClinVar Miner

List of variants reported as benign for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000108.5(DLD):c.*1451T>C rs2108223
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.*207G>A rs4564
NM_000108.5(DLD):c.*28G>T rs17154615
NM_000108.5(DLD):c.*487C>T rs4518
NM_000108.5(DLD):c.*978T>C rs2158835
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_001303.3(COX10):c.-112G>A rs6502330
NM_001303.4(COX10):c.*1076T>C rs1050216
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*322T>C rs11078233
NM_001303.4(COX10):c.*371A>G rs11078234
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*757T>C rs1802618
NM_001303.4(COX10):c.*831_*832CT[1] rs397763766
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354
NM_002291.3(LAMB1):c.5225-7C>T rs3213673
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_003172.3(SURF1):c.-37C>T rs523304
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327
NM_003172.4(SURF1):c.751+6T>C rs41296099
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193
NM_004589.4(SCO1):c.*320= rs2040570
NM_004589.4(SCO1):c.*722C>G rs7512
NM_133259.3(LRPPRC):c.-45G>A rs11124961
NM_133259.4(LRPPRC):c.*1665C>T rs1139250
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921

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