ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Baylor Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
Download table as spreadsheet
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_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
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_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) rs143154211 0.00076
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_052865.4(MGME1):c.659G>A (p.Arg220Gln) rs201465869 0.00059
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg) rs144441199 0.00025
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_004614.5(TK2):c.361C>A (p.His121Asn) rs137854429 0.00016
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_001278716.2(FBXL4):c.131C>A (p.Thr44Asn) rs199983343 0.00013
NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) rs141331864 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_003849.4(SUCLG1):c.635A>G (p.Gln212Arg) rs767781003 0.00011
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_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
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_003849.4(SUCLG1):c.298G>C (p.Val100Leu) rs140441011 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) rs748597500 0.00005
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_003850.3(SUCLA2):c.132A>C (p.Gln44His) rs146794237 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_052865.4(MGME1):c.1018C>A (p.Pro340Thr) rs1024634197 0.00004
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001953.5(TYMP):c.1159+1G>A rs1044840059 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.739C>G (p.Leu247Val) rs754696832 0.00003
NM_003849.4(SUCLG1):c.262C>T (p.Pro88Ser) rs751480162 0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His) rs267607025 0.00003
NM_001953.5(TYMP):c.646+1G>A rs760629248 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.1868T>G (p.Leu623Trp) rs758438414 0.00002
NM_002693.3(POLG):c.2115G>A (p.Met705Ile) rs1302161574 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
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.539C>T (p.Pro180Leu) rs1015958378 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.457G>A (p.Gly153Ser) rs121913038 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_001953.5(TYMP):c.929-1G>A rs1180285291 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.1720C>T (p.Arg574Trp) rs774474723 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) rs121918046 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.1A>G (p.Met1Val) rs201786897 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2777G>A (p.Ser926Asn) rs752971760 0.00001
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) rs765916932 0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 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.3406G>A (p.Glu1136Lys) rs56047213 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.823C>T (p.Arg275Ter) rs1057517803 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys) rs977157089 0.00001
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) rs2051684928
NM_001151.4(SLC25A4):c.706C>T (p.Arg236Cys)
NM_001151.4(SLC25A4):c.874G>C (p.Asp292His) rs1734452457
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1389+11G>A rs1770815162
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer) rs765882664
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.65G>C (p.Arg22Pro) rs147696366
NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu) rs138206466
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg) rs773643115
NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) rs1054084896
NM_001953.5(TYMP):c.113A>G (p.Glu38Gly) rs1240133140
NM_001953.5(TYMP):c.1159+2T>A rs770277446
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.1301-1G>A rs773785934
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.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.417+1G>A rs1603442040
NM_001953.5(TYMP):c.417+2T>G
NM_001953.5(TYMP):c.418-1G>A
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.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+2T>C
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.928+1dup
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter) rs1052593047
NM_002693.3(POLG):c.1024-1G>C rs1567192203
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)
NM_002693.3(POLG):c.1251-2A>T
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
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.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)
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.1712+2T>G
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) rs2055625602
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.1944del (p.Tyr649fs)
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.3(POLG):c.2070+2T>G
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2384A>G (p.Asn795Ser) rs2055414996
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2480+1G>A rs1567187326
NM_002693.3(POLG):c.2480+2T>C
NM_002693.3(POLG):c.2483A>T (p.His828Leu) rs533807211
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2828G>A (p.Arg943His) rs1567186613
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.2951_2954dup (p.Met985fs)
NM_002693.3(POLG):c.2981+2T>G rs775260762
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs) rs1332921412
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
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.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr) rs2152058760
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.3(POLG):c.3424dup (p.Arg1142fs) rs1555452453
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3483-7_3509del
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.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.3626_3629dup (p.Tyr1210Ter)
NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter) rs139562274
NM_002693.3(POLG):c.3643+1G>A
NM_002693.3(POLG):c.508del (p.Ala170fs)
NM_002693.3(POLG):c.659+1G>C
NM_002693.3(POLG):c.740del (p.Leu247fs)
NM_002693.3(POLG):c.793_794del (p.Leu265fs)
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.884dup (p.Met295fs)
NM_002693.3(POLG):c.895A>C (p.Met299Leu)
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002693.3(POLG):c.934_935del (p.Trp312fs)
NM_003201.3(TFAM):c.291+9A>G
NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu) rs796052053
NM_003849.4(SUCLG1):c.532_533delinsAA (p.Pro178Asn) rs1672764673
NM_003850.3(SUCLA2):c.880T>C (p.Trp294Arg) rs756098740
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)
NM_006796.3(AFG3L2):c.1501G>A (p.Glu501Lys) rs1908302608
NM_006796.3(AFG3L2):c.7C>T (p.His3Tyr) rs1909186789
NM_015713.5(RRM2B):c.1010T>A (p.Met337Lys) rs1810576234
NM_015713.5(RRM2B):c.1022C>G (p.Thr341Arg) rs1425182214
NM_015713.5(RRM2B):c.475A>G (p.Ile159Val) rs863224190
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.48+268_48+269delinsAA rs1811166166
NM_015713.5(RRM2B):c.514G>A (p.Ala172Thr) rs753891041
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_018238.4(AGK):c.1039_1042dup (p.Ile348fs) rs778049466
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.