ClinVar Miner

List of variants studied for Leigh syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) rs782623477 0.00007
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829 0.00004
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_002495.4(NDUFS4):c.99-1G>A rs376281345 0.00001
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
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_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657 0.00001
NM_003172.4(SURF1):c.752-1G>C rs1391748504 0.00001
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter) rs782601312 0.00001
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) rs121913661 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
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726 0.00001
NC_000005.9:g.(60241210_60368951)_(60448865_?)del
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.291del (p.Lys96_Trp97insTer) rs121908985
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.350+1G>A rs1260453815
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
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.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.51_54+1dup rs2119089032
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.534_535del (p.Asn178fs) rs1242159511
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
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.754_755del rs782007828
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter) rs2119079745
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
NM_007103.4(NDUFV1):c.499del (p.Ser167fs)
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs) rs2147463824
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_174889.5(NDUFAF2):c.130_131del (p.Gln44fs) rs1752321639
NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)

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