ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP
NM_000108.4(DLD):c.*1688G>A rs8440
NM_000108.4(DLD):c.*855C>T rs116055514
NM_000108.4(DLD):c.*947G>T rs7777259
NM_000108.4(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.4(DLD):c.684+7G>A rs75123588
NM_000108.4(DLD):c.685-14T>A rs80111449
NM_000156.5(GAMT):c.*146A>C rs659455
NM_000156.5(GAMT):c.*151T>C rs659460
NM_000156.5(GAMT):c.*276C>T rs266810
NM_000156.5(GAMT):c.*311C>G rs266811
NM_000156.5(GAMT):c.571-6G>A rs2074899
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) rs1801318
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) rs1127566
NM_001303.3(COX10):c.*1078C>T rs13183
NM_001303.3(COX10):c.*1101C>T rs75165393
NM_001303.3(COX10):c.*1324C>T rs75636595
NM_001303.3(COX10):c.*1385C>T rs1050223
NM_001303.3(COX10):c.*297G>A rs8076247
NM_001303.3(COX10):c.*438G>C rs75823746
NM_001303.3(COX10):c.*974C>A rs2071245
NM_001303.3(COX10):c.-109G>A rs28680987
NM_001303.3(COX10):c.1038G>A (p.Ser346=) rs2230355
NM_001303.3(COX10):c.184A>T (p.Thr62Ser) rs2230351
NM_001303.3(COX10):c.290A>G (p.Tyr97Cys) rs16948986
NM_001303.3(COX10):c.33C>T (p.Arg11=) rs8076787
NM_001303.3(COX10):c.83C>T (p.Thr28Ile) rs16948978
NM_001303.3(COX10):c.928+12G>A rs200573622
NM_001303.3(COX10):c.929-9_929-7dupCCC rs144296730
NM_002495.3(NDUFS4):c.*46G>A rs567
NM_002495.3(NDUFS4):c.424+19dupT rs140172554
NM_002496.3(NDUFS8):c.*14C>T rs1051806
NM_003172.3(SURF1):c.280T>C (p.Leu94=) rs28615629
NM_003172.3(SURF1):c.543C>T (p.Phe181=) rs62637580
NM_003172.3(SURF1):c.573C>G (p.Thr191=) rs28715079
NM_003172.3(SURF1):c.604G>C (p.Asp202His) rs72619327
NM_004168.3(SDHA):c.-115T>C rs2303741
NM_004168.3(SDHA):c.-4A>G rs377134185
NM_004168.3(SDHA):c.-84dupC rs35805262
NM_004168.3(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.3(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.3(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.3(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.3(SDHA):c.1664-8G>A rs199790689
NM_004168.3(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.3(SDHA):c.1908+15C>T rs34504623
NM_004168.3(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.3(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.3(SDHA):c.771-11A>G rs2288461
NM_004168.3(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.3(SDHA):c.891T>C (p.Pro297=) rs1126417
NM_004168.3(SDHA):c.969C>T (p.Gly323=) rs142849100
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272
NM_004328.4(BCS1L):c.1017T>C (p.Pro339=) rs35843327
NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_004328.4(BCS1L):c.996C>T (p.Asn332=) rs33946522
NM_004544.3(NDUFA10):c.*1189C>T rs66534347
NM_004544.3(NDUFA10):c.*1229C>G rs55998047
NM_004544.3(NDUFA10):c.*1923_*1924insA rs138899326
NM_004544.3(NDUFA10):c.*1957G>A rs4854069
NM_004544.3(NDUFA10):c.*2309G>A rs1132778
NM_004544.3(NDUFA10):c.*2602C>T rs58261980
NM_004544.3(NDUFA10):c.*308C>T rs8369
NM_004544.3(NDUFA10):c.*3204C>T rs34277046
NM_004544.3(NDUFA10):c.*3450G>A rs7573892
NM_004544.3(NDUFA10):c.*407C>T rs74614612
NM_004544.3(NDUFA10):c.*414G>A rs13424612
NM_004544.3(NDUFA10):c.*438C>T rs13396556
NM_004544.3(NDUFA10):c.*631C>T rs10933622
NM_004544.3(NDUFA10):c.1000-5delC rs138479490
NM_004544.3(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.3(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.3(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004589.3(SCO1):c.*272T>C rs2662956
NM_004589.3(SCO1):c.*310C>T rs2662957
NM_004589.3(SCO1):c.-71G>T rs2520169
NM_004589.3(SCO1):c.172C>T (p.Pro58Ser) rs1802083
NM_004589.3(SCO1):c.297A>G (p.Ala99=) rs11538237
NM_004589.3(SCO1):c.594A>G (p.Pro198=) rs2271228
NM_005006.6(NDUFS1):c.*256C>T rs10198830
NM_005006.6(NDUFS1):c.*336G>T rs1044120
NM_005006.6(NDUFS1):c.*457T>A rs4147728
NM_005006.6(NDUFS1):c.*733A>G rs6707707
NM_005006.6(NDUFS1):c.*846delT rs58253838
NM_005006.6(NDUFS1):c.-47C>G rs4147707
NM_005006.6(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.6(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.6(NDUFS1):c.551+14C>A rs10206644
NM_005006.6(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_007103.3(NDUFV1):c.-66G>A rs73490568
NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.3(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_024407.4(NDUFS7):c.*13C>A rs11551663
NM_024407.4(NDUFS7):c.408+10G>T rs2074896
NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_133259.3(LRPPRC):c.*1088G>C rs79225555
NM_133259.3(LRPPRC):c.*1335T>C rs76970610
NM_133259.3(LRPPRC):c.*2176A>T rs73924082
NM_133259.3(LRPPRC):c.*556A>T rs1136998
NM_133259.3(LRPPRC):c.*825A>G rs17031753
NM_133259.3(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.3(LRPPRC):c.1677+11C>G rs58811869
NM_133259.3(LRPPRC):c.1888C>T (p.Leu630=) rs35881858
NM_133259.3(LRPPRC):c.2325A>G (p.Lys775=) rs139634347
NM_133259.3(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.3(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133259.3(LRPPRC):c.3900+15C>T rs76850904
NM_133259.3(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971
NM_174889.4(NDUFAF2):c.-91C>T rs4647036

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