ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) rs143722284 0.00089
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
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_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
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_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter) rs778120270 0.00002
NM_003172.4(SURF1):c.516-2A>G rs782682492 0.00002
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470 0.00002
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299 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.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_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) rs2061098856 0.00001
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter) rs1555066709 0.00001
NM_023936.1(MRPS34):c.321+1G>T rs1161932777 0.00001
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446 0.00001
NM_133259.4(LRPPRC):c.864+2T>C rs863224053 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726 0.00001
LRPPRC, 8-BP DEL, EXON 35
NC_000002.12:g.43986415_44009956del
NC_000005.9:g.(60241210_60368951)_(60448865_?)del
NC_000009.12:g.133352139CT[1]
NC_000009.12:g.133352606_133352609del
NC_000009.12:g.133354954_133354958del
NC_012920.1(MT-ATP6):m.8993T>C rs199476133
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9032T>C rs1603221994
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9176T>G rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-CYB):m.15242G>A rs207459999
NC_012920.1(MT-ND1):m.3457G>A
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND2):m.5001dup rs1603219713
NC_012920.1(MT-ND3):m.10134C>A rs587780529
NC_012920.1(MT-ND3):m.10158T>C rs199476117
NC_012920.1(MT-ND3):m.10191T>C rs267606890
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-ND5):m.13112T>C rs1603224043
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND5):m.13514A>G rs587776440
NC_012920.1(MT-ND6):m.14459G>A rs199476105
NC_012920.1(MT-ND6):m.14487T>C rs199476109
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TW):m.5537_5538insT rs199474672
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs) rs1574675683
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs) rs1574663066
NM_002495.4(NDUFS4):c.178-2A>G rs1554059248
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.350+1G>T
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer) rs1554062427
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.109dup
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs) rs1588693841
NM_003172.4(SURF1):c.159_199dup (p.Leu67fs)
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) rs1433471292
NM_003172.4(SURF1):c.19_35del (p.Leu7fs) rs1836590086
NM_003172.4(SURF1):c.19_35dup (p.Ala13fs)
NM_003172.4(SURF1):c.1A>G (p.Met1Val)
NM_003172.4(SURF1):c.1A>T (p.Met1Leu)
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter) rs1244071473
NM_003172.4(SURF1):c.240+1G>A
NM_003172.4(SURF1):c.266_271del (p.Asn89_Leu90del) rs2119085074
NM_003172.4(SURF1):c.273del (p.Ile91fs) rs2119085056
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.283del (p.Glu95fs) rs2119085025
NM_003172.4(SURF1):c.283dup (p.Glu95fs)
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) rs1410388157
NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) rs28933402
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
NM_003172.4(SURF1):c.3G>A (p.Met1Ile)
NM_003172.4(SURF1):c.41_50dup (p.Arg18fs)
NM_003172.4(SURF1):c.465_466del (p.Thr156fs) rs1564349176
NM_003172.4(SURF1):c.470dup (p.Ser158fs)
NM_003172.4(SURF1):c.485_486del (p.Val162fs) rs2119083367
NM_003172.4(SURF1):c.515+1del
NM_003172.4(SURF1):c.527del (p.Leu176fs)
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.533dup (p.Asn178fs)
NM_003172.4(SURF1):c.535dup (p.Arg179fs)
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
NM_003172.4(SURF1):c.555_556del (p.Lys186fs) rs1363125797
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.577C>T (p.Gln193Ter) rs782420522
NM_003172.4(SURF1):c.579_580del (p.Lys194fs)
NM_003172.4(SURF1):c.579del (p.Gly195fs)
NM_003172.4(SURF1):c.581_582del (p.Lys194fs)
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003172.4(SURF1):c.588+1G>C
NM_003172.4(SURF1):c.589-1G>C
NM_003172.4(SURF1):c.58_59dup (p.Ala21fs) rs2119088472
NM_003172.4(SURF1):c.595_598del (p.Gly199fs) rs2119081217
NM_003172.4(SURF1):c.606_610dup (p.Ile204fs)
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.632_642del (p.Glu211fs) rs781954439
NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)
NM_003172.4(SURF1):c.65del (p.Ser22fs)
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter) rs1057520688
NM_003172.4(SURF1):c.6_22dup (p.Gln8fs)
NM_003172.4(SURF1):c.751+1G>A
NM_003172.4(SURF1):c.751del (p.Gln251fs)
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.764del (p.Pro255fs)
NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser) rs1053850536
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
NM_003172.4(SURF1):c.773_784del (p.Pro258_Gly261del) rs1333638410
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.795_804dup (p.Asn269fs)
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.804del (p.Asn269fs)
NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)
NM_003172.4(SURF1):c.808_812del (p.Glu270fs) rs1836430953
NM_003172.4(SURF1):c.808_817dup (p.Gln273fs)
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.815_825dup (p.Val276fs) rs1220688120
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
NM_003172.4(SURF1):c.818_825dup (p.Val276fs)
NM_003172.4(SURF1):c.820_824dup (p.Val276fs)
NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_003172.4(SURF1):c.837T>G (p.Tyr279Ter)
NM_003172.4(SURF1):c.838_839dup (p.Leu281fs)
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.870del (p.Phe290fs)
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs) rs766830864
NM_007103.4(NDUFV1):c.499del (p.Ser167fs)
NM_007103.4(NDUFV1):c.753_756del (p.Pro252fs) rs1229474296
NM_015965.7(NDUFA13):c.194del (p.Phe65fs) rs2061105702
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs) rs1189650128
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) rs373436822
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter) rs746627889
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del) rs863225444
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del) rs863225445
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.3900+1G>C rs863225443
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179
NM_152416.3(NDUFAF6):c.[328G>T];[611C>T]
NM_174889.5(NDUFAF2):c.130_131del (p.Gln44fs) rs1752321639
mitochondrial DNA deletion

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