ClinVar Miner

List of variants reported as likely benign for Leigh syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NC_000011.10:g.67606931T>C
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000156.6(GAMT):c.*146A>C rs659455
NM_000156.6(GAMT):c.*151T>C rs659460
NM_000156.6(GAMT):c.*276C>T rs266810
NM_000156.6(GAMT):c.*311C>G rs266811
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001294332.1(SDHA):c.-115T>C rs2303741
NM_001294332.1(SDHA):c.-84dup rs35805262
NM_001303.3(COX10):c.-109G>A rs28680987
NM_001303.4(COX10):c.*1267A>G
NM_001303.4(COX10):c.*1383G>A
NM_001303.4(COX10):c.*646C>G rs7214082
NM_001303.4(COX10):c.*904C>G
NM_001303.4(COX10):c.1096G>T (p.Val366Leu) rs111541535
NM_001303.4(COX10):c.302C>T (p.Pro101Leu) rs145948285
NM_001303.4(COX10):c.675G>T (p.Pro225=) rs199609301
NM_001303.4(COX10):c.909C>T (p.Ala303=) rs370260574
NM_001303.4(COX10):c.929-9_929-7dup rs144296730
NM_001303.4(COX10):c.93C>A (p.Asp31Glu) rs141481210
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629
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_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.4(SDHA):c.1908+15C>T rs34504623
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100
NM_004544.4(NDUFA10):c.*1453G>A
NM_004544.4(NDUFA10):c.*183C>T
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326
NM_004544.4(NDUFA10):c.*1930C>G
NM_004544.4(NDUFA10):c.*428C>T
NM_004544.4(NDUFA10):c.*647C>T rs116254382
NM_004544.4(NDUFA10):c.*679A>G
NM_004544.4(NDUFA10):c.-38T>G rs374970309
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586
NM_004589.3(SCO1):c.-71G>T rs2520169
NM_004589.4(SCO1):c.*270T>A
NM_004589.4(SCO1):c.167G>A (p.Gly56Glu) rs374849575
NM_005006.7(NDUFS1):c.*256C>T rs10198830
NM_005006.7(NDUFS1):c.*341A>G
NM_005006.7(NDUFS1):c.*426T>G
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.-76G>A
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.551+14C>A rs10206644
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_020354.5(ENTPD7):c.*4258A>G rs10490941
NM_020354.5(ENTPD7):c.*4513G>A rs138423739
NM_020354.5(ENTPD7):c.*5070A>G rs73345141
NM_020354.5(ENTPD7):c.*6091A>C rs80332976
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_078470.6(COX15):c.*1197T>C rs149696723
NM_078470.6(COX15):c.*1693G>A rs74981084
NM_078470.6(COX15):c.*1876A>G
NM_078470.6(COX15):c.548G>A (p.Arg183His) rs35483721
NM_133259.4(LRPPRC):c.*1564G>A rs142436911
NM_133259.4(LRPPRC):c.*1961T>C rs541683193
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480

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