ClinVar Miner

List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 474
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002437.5(MPV17):c.461+2T>C rs138199394 0.00015
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_004614.5(TK2):c.415G>A (p.Ala139Thr) rs138479499 0.00013
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile) rs182614164 0.00005
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile) rs1391578014 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_004614.5(TK2):c.156+2T>C rs281865499 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) rs140626260 0.00002
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 0.00002
NM_004614.5(TK2):c.441del (p.Tyr148fs) rs768548319 0.00002
NM_015713.5(RRM2B):c.118C>T (p.Arg40Cys) rs776184830 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) rs1272393477 0.00001
NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro) rs772037717 0.00001
NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu) rs1443104983 0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg) rs1345325140 0.00001
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159 0.00001
NM_001278716.2(FBXL4):c.858+5G>C rs1257765682 0.00001
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) rs1251044974 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) rs2069504242 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.647-1G>A rs1295236603 0.00001
NM_001953.5(TYMP):c.647C>T (p.Ala216Val) rs1064792855 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_002437.5(MPV17):c.408+1G>A rs749361266 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg) rs758112770 0.00001
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro) rs774610098 0.00001
NM_002693.3(POLG):c.1433+2T>C rs920850257 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1816dup (p.Thr606fs) rs1319481399 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) rs759128787 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) rs769210629 0.00001
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr) rs935602068 0.00001
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) rs765916932 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys) rs56047213 0.00001
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp) rs755725702 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) rs757075712 0.00001
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp) rs1233249991 0.00001
NM_003850.3(SUCLA2):c.478C>T (p.Arg160Ter) rs1950124035 0.00001
NM_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487 0.00001
NM_004614.5(TK2):c.268C>T (p.Arg90Cys) rs281865489 0.00001
NM_004614.5(TK2):c.310C>T (p.Arg104Cys) rs1194187379 0.00001
NM_004614.5(TK2):c.338T>A (p.Val113Glu) rs746707855 0.00001
NM_004614.5(TK2):c.389G>A (p.Arg130Gln) rs281865492 0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_015713.5(RRM2B):c.204+5G>A rs372991229 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.328C>T (p.Arg110Cys) rs515726186 0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) rs515726189 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) rs780424781 0.00001
NC_000002.11:g.(?_84650870)_(84652747_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) rs376624048
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) rs751031650
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) rs1560841701
NM_001151.4(SLC25A4):c.46_47del (p.Gly16fs)
NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter) rs1582402094
NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe) rs1554218821
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro) rs542852839
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu) rs754142863
NM_001278716.2(FBXL4):c.1323del (p.Ala442fs) rs1582367960
NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp) rs2128378917
NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter) rs750973870
NM_001278716.2(FBXL4):c.1400_1401del (p.Asp466_Tyr467insTer) rs1238870745
NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr) rs1227524799
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly) rs1411907961
NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del) rs878853112
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001278716.2(FBXL4):c.1648_1651del (p.Asp550fs)
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) rs995995791
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg) rs1554215804
NM_001278716.2(FBXL4):c.1750del (p.Cys584fs) rs2128374874
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly) rs747618415
NM_001278716.2(FBXL4):c.1787del (p.Ser596fs) rs2128374840
NM_001278716.2(FBXL4):c.1836del (p.Val613fs) rs751656896
NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu) rs1554215766
NM_001278716.2(FBXL4):c.197G>A (p.Gly66Glu)
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001278716.2(FBXL4):c.299A>G (p.Tyr100Cys) rs2128405537
NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter) rs761974928
NM_001278716.2(FBXL4):c.415_416insTT (p.Ala139fs) rs767543583
NM_001278716.2(FBXL4):c.417_418insA (p.Val140fs) rs761902417
NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr) rs1350566881
NM_001278716.2(FBXL4):c.661G>C (p.Asp221His) rs1554221191
NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val) rs1554221189
NM_001278716.2(FBXL4):c.826_842del (p.Pro275_Asn276insTer)
NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter) rs775768793
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) rs1471478620
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) rs772501604
NM_001953.5(TYMP):c.1416del (p.Phe473fs) rs1203886148
NM_001953.5(TYMP):c.1447T>C (p.Ter483Gln)
NM_001953.5(TYMP):c.207_214+6del
NM_001953.5(TYMP):c.20del (p.Pro7fs) rs2148683541
NM_001953.5(TYMP):c.214+1G>C
NM_001953.5(TYMP):c.214+1G>T rs1200609783
NM_001953.5(TYMP):c.214+2T>C
NM_001953.5(TYMP):c.215-13_215delinsGCGTGA
NM_001953.5(TYMP):c.25del (p.Thr9fs)
NM_001953.5(TYMP):c.260_266del (p.Glu87fs)
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) rs891107196
NM_001953.5(TYMP):c.298C>T (p.Gln100Ter)
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.391C>A (p.Pro131Thr) rs863224255
NM_001953.5(TYMP):c.391C>T (p.Pro131Ser)
NM_001953.5(TYMP):c.417+2T>G
NM_001953.5(TYMP):c.418-1G>A
NM_001953.5(TYMP):c.454G>T (p.Gly152Ter)
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.520C>T (p.Gln174Ter) rs2069446068
NM_001953.5(TYMP):c.532_548dup (p.Cys183fs)
NM_001953.5(TYMP):c.535C>T (p.Gln179Ter)
NM_001953.5(TYMP):c.536_539dup (p.Cys182fs)
NM_001953.5(TYMP):c.554_561del (p.Val185fs)
NM_001953.5(TYMP):c.694del (p.Val232fs)
NM_001953.5(TYMP):c.729del (p.Asn244fs) rs755728248
NM_001953.5(TYMP):c.736G>T (p.Glu246Ter)
NM_001953.5(TYMP):c.739C>T (p.Gln247Ter)
NM_001953.5(TYMP):c.748G>T (p.Glu250Ter)
NM_001953.5(TYMP):c.765+1G>C
NM_001953.5(TYMP):c.765+2T>C
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) rs1178421926
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.928+1dup
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) rs892141220
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter) rs1052593047
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) rs762327729
NM_002437.5(MPV17):c.130C>T (p.Gln44Ter) rs772370243
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002437.5(MPV17):c.179del (p.Gly60fs) rs1558599953
NM_002437.5(MPV17):c.1A>G (p.Met1Val)
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) rs1679497709
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) rs1057524366
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002437.5(MPV17):c.279+1G>C
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) rs267607257
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) rs1553383467
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002437.5(MPV17):c.388G>C (p.Ala130Pro) rs1382428056
NM_002437.5(MPV17):c.391del (p.Ile132fs) rs1469699202
NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter) rs1572542511
NM_002437.5(MPV17):c.450_451dup (p.Leu151fs)
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys)
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) rs267607260
NM_002437.5(MPV17):c.67G>C (p.Ala23Pro) rs1572555080
NM_002437.5(MPV17):c.71-1G>A
NM_002693.3(POLG):c.1023+1G>A
NM_002693.3(POLG):c.1023+1G>C
NM_002693.3(POLG):c.1024-1G>C rs1567192203
NM_002693.3(POLG):c.1157G>C (p.Arg386Pro)
NM_002693.3(POLG):c.1170+1G>C
NM_002693.3(POLG):c.1171-2A>G
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro) rs1567191334
NM_002693.3(POLG):c.1552del (p.Ala518fs)
NM_002693.3(POLG):c.1575_1578del (p.Met525fs) rs1253517114
NM_002693.3(POLG):c.1586-1G>A rs2055524549
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)
NM_002693.3(POLG):c.1663del (p.Thr555fs)
NM_002693.3(POLG):c.1712+2T>G
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) rs2055625602
NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly) rs139717885
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.1818del (p.Trp607fs) rs2055505065
NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)
NM_002693.3(POLG):c.1845dup (p.Glu616fs)
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.1874C>G (p.Pro625Arg)
NM_002693.3(POLG):c.1942C>T (p.Pro648Ser)
NM_002693.3(POLG):c.1942_1943delinsAG (p.Pro648Ser)
NM_002693.3(POLG):c.1944del (p.Tyr649fs)
NM_002693.3(POLG):c.1949+1G>C
NM_002693.3(POLG):c.1950-1G>A
NM_002693.3(POLG):c.1950-2A>G rs2152063472
NM_002693.3(POLG):c.2070+2T>G
NM_002693.3(POLG):c.2185C>T (p.Gln729Ter)
NM_002693.3(POLG):c.2209G>A (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2209G>T (p.Gly737Ter)
NM_002693.3(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2266-1G>A rs2152062443
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu) rs755315398
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
NM_002693.3(POLG):c.2341G>C (p.Ala781Pro)
NM_002693.3(POLG):c.2391G>T (p.Met797Ile) rs2152062357
NM_002693.3(POLG):c.2391_2393del (p.Met797del) rs1567187766
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2426+1G>A
NM_002693.3(POLG):c.2479_2480+8del
NM_002693.3(POLG):c.2480+1G>T
NM_002693.3(POLG):c.2480+2T>C
NM_002693.3(POLG):c.248T>C (p.Leu83Pro) rs1567194243
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr) rs750203541
NM_002693.3(POLG):c.2552C>A (p.Thr851Asn)
NM_002693.3(POLG):c.2552C>G (p.Thr851Ser)
NM_002693.3(POLG):c.2555G>A (p.Arg852His) rs1567187093
NM_002693.3(POLG):c.2557C>G (p.Arg853Gly)
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2585C>T (p.Ala862Val) rs2152061668
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg) rs1567187057
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_002693.3(POLG):c.2598+1G>A
NM_002693.3(POLG):c.2598+2T>C rs1596352762
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro) rs763393580
NM_002693.3(POLG):c.2666C>T (p.Ala889Val)
NM_002693.3(POLG):c.2740A>G (p.Thr914Ala)
NM_002693.3(POLG):c.2755A>G (p.Met919Val)
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.2788G>A (p.Asp930Asn)
NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)
NM_002693.3(POLG):c.2798G>A (p.Ser933Asn)
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2858G>A (p.Arg953His) rs1567186581
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.3(POLG):c.2884dup (p.Ala962fs) rs1252078081
NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)
NM_002693.3(POLG):c.2981+1G>C
NM_002693.3(POLG):c.2981+2T>G rs775260762
NM_002693.3(POLG):c.2982-1G>A
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.3(POLG):c.3104+1G>T
NM_002693.3(POLG):c.3104+2_3104+5del rs761664802
NM_002693.3(POLG):c.3104+3A>C
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu) rs775248939
NM_002693.3(POLG):c.3152G>C (p.Gly1051Ala)
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro) rs140079523
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)
NM_002693.3(POLG):c.3282del (p.Ser1095fs) rs1596350117
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu) rs368435864
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter) rs2055345819
NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3328C>A (p.His1110Asn)
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr) rs2152058760
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro) rs1567185178
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)
NM_002693.3(POLG):c.3402T>G (p.His1134Gln)
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3483-7_3509del
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3514_3517dup (p.Leu1173Ter)
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs) rs1596348547
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002693.3(POLG):c.3539dup (p.Ser1181fs)
NM_002693.3(POLG):c.3543T>A (p.Ser1181Arg)
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg) rs754844175
NM_002693.3(POLG):c.3565dup (p.Leu1189fs)
NM_002693.3(POLG):c.3568del (p.Arg1190fs) rs1596348470
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) rs1596348443
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)
NM_002693.3(POLG):c.368T>G (p.Val123Gly)
NM_002693.3(POLG):c.45dup (p.Pro16fs)
NM_002693.3(POLG):c.470T>C (p.Leu157Pro) rs1567194013
NM_002693.3(POLG):c.508del (p.Ala170fs)
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
NM_002693.3(POLG):c.659+1G>C
NM_002693.3(POLG):c.659+1G>T
NM_002693.3(POLG):c.660-2A>G rs2141806882
NM_002693.3(POLG):c.730C>T (p.Leu244Phe)
NM_002693.3(POLG):c.740del (p.Leu247fs)
NM_002693.3(POLG):c.793_794del (p.Leu265fs)
NM_002693.3(POLG):c.814del (p.Ser272fs)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.3(POLG):c.855+1G>C
NM_002693.3(POLG):c.880_881del (p.Thr294fs)
NM_002693.3(POLG):c.884dup (p.Met295fs)
NM_002693.3(POLG):c.895A>C (p.Met299Leu)
NM_002693.3(POLG):c.934_935del (p.Trp312fs)
NM_002693.3(POLG):c.967C>T (p.Gln323Ter)
NM_003201.3(TFAM):c.441del (p.Glu148fs)
NM_003849.4(SUCLG1):c.319-1G>A
NM_003849.4(SUCLG1):c.41T>C (p.Met14Thr) rs1369567672
NM_003849.4(SUCLG1):c.673+1G>C
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)
NM_003849.4(SUCLG1):c.790G>T (p.Glu264Ter)
NM_003849.4(SUCLG1):c.826-1G>A
NM_003850.3(SUCLA2):c.1108-1G>A
NM_003850.3(SUCLA2):c.1134del (p.Phe378fs) rs2137688148
NM_003850.3(SUCLA2):c.1165C>T (p.Gln389Ter)
NM_003850.3(SUCLA2):c.1225C>T (p.Gln409Ter) rs2137688022
NM_003850.3(SUCLA2):c.191T>C (p.Leu64Ser) rs1950196208
NM_003850.3(SUCLA2):c.299A>C (p.Gln100Pro) rs2137743496
NM_003850.3(SUCLA2):c.814G>C (p.Asp272His) rs2137694642
NM_003850.3(SUCLA2):c.91-10A>G rs754813556
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003850.3(SUCLA2):c.997G>T (p.Asp333Tyr) rs972696428
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)
NM_004614.5(TK2):c.169G>A (p.Gly57Ser) rs749123392
NM_004614.5(TK2):c.402G>T (p.Arg134Ser)
NM_004614.5(TK2):c.544del (p.Leu182fs)
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501
NM_004614.5(TK2):c.623A>G (p.Tyr208Cys) rs1964523180
NM_004614.5(TK2):c.655T>C (p.Trp219Arg) rs748655443
NM_004614.5(TK2):c.71_72insTT (p.Pro25fs) rs2144497920
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly) rs764254189
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_013975.4(LIG3):c.2653_2654del (p.Leu884_Ser885insTer) rs2142286963
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp) rs515726181
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) rs200273673
NM_015713.5(RRM2B):c.128T>A (p.Val43Asp) rs1587186073
NM_015713.5(RRM2B):c.168T>A (p.Tyr56Ter)
NM_015713.5(RRM2B):c.184del (p.Ser62fs)
NM_015713.5(RRM2B):c.1A>G (p.Met1Val) rs772913758
NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter)
NM_015713.5(RRM2B):c.455+1G>A rs2132555188
NM_015713.5(RRM2B):c.472G>A (p.Ala158Thr)
NM_015713.5(RRM2B):c.48+268_48+269delinsAA rs1811166166
NM_015713.5(RRM2B):c.49-2A>G
NM_015713.5(RRM2B):c.520C>T (p.Arg174Ter) rs863224191
NM_015713.5(RRM2B):c.540del (p.Lys180fs)
NM_015713.5(RRM2B):c.635_636insAAG (p.Gly212_Leu213insSer) rs863224914
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_015713.5(RRM2B):c.94G>T (p.Glu32Ter)
NM_018238.4(AGK):c.1047-2A>T rs886041491
NM_018238.4(AGK):c.1131+2T>C rs1797560612
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del) rs1554405947
NM_018238.4(AGK):c.1215dup (p.Phe406fs) rs1587181981
NM_018238.4(AGK):c.222-2A>C
NM_018238.4(AGK):c.390+1G>A rs777096695
NM_018238.4(AGK):c.390G>A (p.Glu130=) rs771375243
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018238.4(AGK):c.877+2T>G rs1587162871
NM_018238.4(AGK):c.976-1G>C
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter)
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter) rs587776943
NM_052865.4(MGME1):c.589_590del (p.Arg196_Asp197insTer)
NM_080916.3(DGUOK):c.142+4A>C
NM_080916.3(DGUOK):c.14_15del (p.Arg5fs)
NM_080916.3(DGUOK):c.173T>C (p.Leu58Pro)
NM_080916.3(DGUOK):c.214_215del (p.Val72fs)
NM_080916.3(DGUOK):c.255+3_255+6del
NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) rs587780587
NM_080916.3(DGUOK):c.353G>A (p.Arg118His) rs150678946
NM_080916.3(DGUOK):c.384_385dup (p.Lys129fs)
NM_080916.3(DGUOK):c.444-62C>A rs528587600
NM_080916.3(DGUOK):c.592-4_592-3del
NM_080916.3(DGUOK):c.707+2T>G rs1573582059
NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) rs104893633
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_130837.3(OPA1):c.*4_*5+2del rs754411271
NR_002717.2:n.894CTA[(3)]CTG[(317_330)]

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