ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) rs1187982748 0.00001
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr) rs757486575 0.00001
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter) rs368690277 0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001
NC_000005.9:g.(?_60240955)_(60241210_60368951)del
NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del
NC_000011.9:g.(67377107_67377851)_(67380013_?)del
NC_000011.9:g.(67378042_67378465)_(67380013_?)del
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs) rs2128375658
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs) rs1740730588
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs)
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) rs1433471292
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter) rs1836590782
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.51_54+1dup rs2119089032
NM_003172.4(SURF1):c.530T>G (p.Val177Gly)
NM_003172.4(SURF1):c.534_535del (p.Asn178fs) rs1242159511
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs) rs2147463824
NM_024120.5(NDUFAF5):c.425A>C (p.Glu142Ala)
NM_024120.5(NDUFAF5):c.519+2T>C
NM_024120.5(NDUFAF5):c.519+2T>G rs2147534220
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
NM_024407.5(NDUFS7):c.17-1167C>G rs1568985256
NM_078470.6(COX15):c.79_90+3delinsGACT
NM_133259.4(LRPPRC):c.1369+2T>A
NM_133259.4(LRPPRC):c.149+1G>T
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs) rs2105077465
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) rs1558936154
NM_133259.4(LRPPRC):c.3275+1G>T
NM_133259.4(LRPPRC):c.3364+2T>C
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)

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