ClinVar Miner

List of variants reported as uncertain significance for inborn mitochondrial metabolism disorder by Revvity Omics, Revvity

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_001687.5(ATP5F1D):c.25C>T (p.Arg9Cys) rs531544101 0.00316
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg) rs11547480 0.00101
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) rs141647723 0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078 0.00058
NM_024537.4(CARS2):c.244G>A (p.Val82Ile) rs117788141 0.00055
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr) rs146638016 0.00047
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) rs145602077 0.00031
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_017827.4(SARS2):c.17C>T (p.Ala6Val) rs201988841 0.00029
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
NM_133259.4(LRPPRC):c.2210+10C>T rs200747013 0.00019
NM_001278716.2(FBXL4):c.1103+13C>T rs182076681 0.00016
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser) rs201858974 0.00016
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078 0.00016
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00016
NM_012208.4(HARS2):c.1254G>C (p.Gln418His) rs138090816 0.00015
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_001358921.2(COQ2):c.-23C>G rs368891722 0.00013
NM_021074.5(NDUFV2):c.428G>A (p.Arg143Gln) rs148158107 0.00013
NM_213649.2(SFXN4):c.677C>T (p.Ala226Val) rs151157939 0.00012
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) rs148261223 0.00011
NM_017866.6(TMEM70):c.128G>A (p.Ser43Asn) rs199815125 0.00011
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln) rs782357172 0.00010
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser) rs373908553 0.00010
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_003477.3(PDHX):c.542G>A (p.Arg181Gln) rs148117169 0.00009
NM_017827.4(SARS2):c.988C>T (p.Arg330Trp) rs781367675 0.00009
NC_000001.11:g.114695547A>G rs377496676 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_017827.4(SARS2):c.637G>A (p.Asp213Asn) rs151116675 0.00008
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn) rs766087007 0.00006
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln) rs200592030 0.00006
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln) rs778409451 0.00004
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile) rs201452351 0.00004
NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala) rs757761857 0.00004
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met) rs371666279 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_021100.5(NFS1):c.948+1G>T rs774266655 0.00003
NM_032380.5(GFM2):c.431-3T>C rs369071633 0.00003
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn) rs772228438 0.00002
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg) rs374679403 0.00002
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg) rs749767366 0.00002
NM_199069.2(NDUFAF3):c.74C>T (p.Pro25Leu) rs368575094 0.00002
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) rs886044350 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NM_000925.4(PDHB):c.826A>T (p.Met276Leu) rs372743787 0.00001
NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr) rs376909719 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) rs372417584 0.00001
NM_005004.4(NDUFB8):c.29G>T (p.Gly10Val) rs747478517 0.00001
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr) rs757486575 0.00001
NM_014317.5(PDSS1):c.270A>T (p.Glu90Asp) rs147126048 0.00001
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp) rs1157458251 0.00001
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser) rs746241006 0.00001
NM_032620.4(GTPBP3):c.664+18T>G rs369523370 0.00001
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
NM_000036.3(AMPD1):c.35-2A>G
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
NM_000284.4(PDHA1):c.*10_*12del rs752082232
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001083614.2(EARS2):c.569G>A (p.Arg190His) rs533072942
NM_001136193.2(FASTKD2):c.1156T>C (p.Leu386=)
NM_001136193.2(FASTKD2):c.266G>A (p.Gly89Asp)
NM_001136193.2(FASTKD2):c.484G>A (p.Glu162Lys)
NM_001277062.2(MFF):c.403G>A (p.Val135Ile)
NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg)
NM_001278716.2(FBXL4):c.1317+137T>C
NM_001278716.2(FBXL4):c.1390-2172C>T
NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu) rs779731686
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del) rs775741794
NM_001358921.2(COQ2):c.254-2A>T
NM_001358921.2(COQ2):c.762+1G>A
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)
NM_001687.5(ATP5F1D):c.349G>T (p.Glu117Ter)
NM_001916.5(CYC1):c.11C>T (p.Ala4Val)
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)
NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)
NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser)
NM_002541.4(OGDH):c.2761A>G (p.Met921Val)
NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)
NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)
NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)
NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)
NM_003119.4(SPG7):c.619-3C>G rs199740629
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
NM_003201.3(TFAM):c.313G>A (p.Ala105Thr)
NM_003366.4(UQCRC2):c.206G>A (p.Ser69Asn)
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro) rs2141926322
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp) rs200189510
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
NM_003477.3(PDHX):c.293C>T (p.Ala98Val)
NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)
NM_003849.4(SUCLG1):c.40A>G (p.Met14Val) rs796052053
NM_003849.4(SUCLG1):c.548T>G (p.Ile183Ser)
NM_003849.4(SUCLG1):c.844G>A (p.Val282Ile)
NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)
NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)
NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)
NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
NM_004544.4(NDUFA10):c.1025_1026insATGG (p.Tyr343fs)
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)
NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)
NM_004589.4(SCO1):c.555del (p.Asp185fs)
NM_005002.5(NDUFA9):c.158G>C (p.Gly53Ala)
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005002.5(NDUFA9):c.721T>C (p.Tyr241His)
NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys)
NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)
NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)
NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr)
NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)
NM_005035.4(POLRMT):c.2177G>A (p.Cys726Tyr)
NM_005035.4(POLRMT):c.2911G>A (p.Ala971Thr)
NM_005035.4(POLRMT):c.578G>A (p.Arg193Gln)
NM_005035.4(POLRMT):c.789G>T (p.Met263Ile)
NM_005726.6(TSFM):c.321T>G (p.Ile107Met)
NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)
NM_007103.4(NDUFV1):c.283A>G (p.Thr95Ala) rs147242476
NM_012123.4(MTO1):c.1436A>G (p.Asp479Gly)
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs) rs759445569
NM_012123.4(MTO1):c.392G>A (p.Arg131Lys)
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)
NM_015965.7(NDUFA13):c.2T>C (p.Met1Thr)
NM_016013.4(NDUFAF1):c.624_625del (p.Tyr209fs)
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr) rs995894816
NM_016035.5(COQ4):c.794C>T (p.Ala265Val)
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_016360.4(TACO1):c.693+4A>G
NM_016360.4(TACO1):c.814G>A (p.Asp272Asn)
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs) rs750461248
NM_017547.4(FOXRED1):c.1234_1239del (p.Asp412_Tyr413del)
NM_017547.4(FOXRED1):c.354G>C (p.Gln118His)
NM_017547.4(FOXRED1):c.50G>A (p.Arg17Gln)
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_017547.4(FOXRED1):c.677G>A (p.Gly226Glu)
NM_017547.4(FOXRED1):c.682C>T (p.Arg228Trp) rs758966293
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)
NM_017866.6(TMEM70):c.354C>G (p.Gly118=)
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)
NM_018006.5(TRMU):c.-454_-452del
NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
NM_018060.4(IARS2):c.991G>A (p.Val331Ile)
NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)
NM_018116.4(MSTO1):c.220+5G>C
NM_018122.5(DARS2):c.1028A>G (p.Asp343Gly)
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) rs972404343
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_018480.7(TMEM126B):c.626T>C (p.Ile209Thr)
NM_018838.5(NDUFA12):c.153CAA[1] (p.Asn52del)
NM_018838.5(NDUFA12):c.83dup (p.Arg29fs) rs1259705655
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly)
NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu)
NM_020320.5(RARS2):c.19C>A (p.Arg7Ser)
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)
NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)
NM_021074.5(NDUFV2):c.121-3T>C
NM_021074.5(NDUFV2):c.579+1G>A
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
NM_024120.5(NDUFAF5):c.328-3C>T
NM_024120.5(NDUFAF5):c.837G>A (p.Met279Ile)
NM_024407.5(NDUFS7):c.520G>A (p.Val174Met)
NM_024537.4(CARS2):c.1417-2A>C
NM_024537.4(CARS2):c.204del (p.His69fs)
NM_024996.7(GFM1):c.1209C>A (p.Ala403=)
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
NM_025150.5(TARS2):c.774+5G>T
NM_025152.3(NUBPL):c.201A>G (p.Lys67=)
NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)
NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)
NM_025152.3(NUBPL):c.514-19835C>A
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_032380.5(GFM2):c.2164C>T (p.Gln722Ter)
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg) rs576602246
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_052865.4(MGME1):c.203C>G (p.Thr68Ser)
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile)
NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)
NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)
NM_133259.4(LRPPRC):c.1649+3A>G
NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile)
NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)
NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)
NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)
NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)
NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)
NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
NM_174889.5(NDUFAF2):c.263T>C (p.Ile88Thr)
NM_174889.5(NDUFAF2):c.50G>A (p.Arg17Lys)
NM_176818.3(GATC):c.128T>C (p.Leu43Pro)
NM_181705.4(LYRM7):c.128A>G (p.Asn43Ser)
NM_181705.4(LYRM7):c.142TCT[1] (p.Ser49del)
NM_194279.4(ISCA2):c.422A>T (p.Gln141Leu)
NM_199069.2(NDUFAF3):c.517G>A (p.Gly173Arg)
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371
NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)
NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)

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