ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.*163T>C rs2832 0.79934
NM_080916.2(DGUOK):c.-48G>A rs10186730 0.04865
NM_003849.3(SUCLG1):c.-133C>T rs12621740 0.01126
NM_003850.3(SUCLA2):c.*714dup rs563064046 0.01109
NM_003849.4(SUCLG1):c.201+9A>G rs116492610 0.01020
NM_003849.4(SUCLG1):c.*55G>C rs80166442 0.01010
NM_003849.4(SUCLG1):c.*207A>G rs73942653 0.00784
NM_003849.3(SUCLG1):c.-107A>G rs140936198 0.00764
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_015713.5(RRM2B):c.*2151_*2152insA rs563908556 0.00332
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_003849.3(SUCLG1):c.-186G>A rs143151382 0.00122
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_004614.5(TK2):c.*1758del rs886052196 0.00041
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) rs374594774 0.00027
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) rs369610897 0.00025
NM_004614.5(TK2):c.*2122G>A rs193271947 0.00021
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) rs149809280 0.00019
NM_004614.5(TK2):c.361C>A (p.His121Asn) rs137854429 0.00016
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_003849.4(SUCLG1):c.*38C>T rs369617521 0.00014
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_004614.5(TK2):c.415G>A (p.Ala139Thr) rs138479499 0.00013
NM_080916.3(DGUOK):c.592-9del rs749290011 0.00012
NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) rs146834097 0.00010
NM_002437.5(MPV17):c.*80C>T rs200529035 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_003849.4(SUCLG1):c.*218A>G rs570310549 0.00005
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_004614.5(TK2):c.156+2T>C rs281865499 0.00003
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_002437.5(MPV17):c.*194G>A rs886055895 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.70+5G>A rs267607268 0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) rs121918046 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) rs121918050 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr) rs748995693 0.00001
NM_003849.4(SUCLG1):c.201+8T>A rs764185628 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004614.5(TK2):c.268C>T (p.Arg90Cys) rs281865489 0.00001
NC_000002.11:g.(27535977_27545314)_(27545965_?)del
NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter) rs1582402094
NM_002437.5(MPV17):c.125del (p.Gly42fs)
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
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.280G>C (p.Gly94Arg) rs267607257
NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)
NM_002693.3(POLG):c.2391G>T (p.Met797Ile) rs2152062357
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala) rs775445970
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_003849.3(SUCLG1):c.-150T>A rs886056354
NM_003849.3(SUCLG1):c.-39C>A rs144946502
NM_003849.3(SUCLG1):c.-39C>G rs144946502
NM_003849.3(SUCLG1):c.-71G>T rs886056353
NM_003849.4(SUCLG1):c.*13del rs527774382
NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) rs564792232
NM_003849.4(SUCLG1):c.98-10_98-8del rs886056350
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-15_98-14insAACC rs886056352
NM_003850.3(SUCLA2):c.*195A>G rs886050260
NM_003850.3(SUCLA2):c.*294TTC[1] rs886050259
NM_003850.3(SUCLA2):c.*35T>G rs886050261
NM_004614.5(TK2):c.*1591dup rs886052201
NM_004614.5(TK2):c.*1739_*1740insC rs886052197
NM_004614.5(TK2):c.*1756_*1757dup rs34931863
NM_004614.5(TK2):c.*1758_*1759insT rs886052195
NM_004614.5(TK2):c.*1758_*1759insTT rs886052195
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn) rs281865507
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501
NM_004614.5(TK2):c.71_72insTT (p.Pro25fs) rs2144497920
NM_015713.5(RRM2B):c.*1894dup rs150629554
NM_015713.5(RRM2B):c.*2328A>T rs886062565
NM_015713.5(RRM2B):c.*2492AAGTT[1] rs886062564
NM_015713.5(RRM2B):c.*3003_*3004del rs552260099
NM_015713.5(RRM2B):c.*74del rs886062569
NM_021830.5(TWNK):c.*472GA[2] rs370783985
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-306GT[1] rs146265037
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_080916.2(DGUOK):c.-54C>A rs753666732
NM_080916.2(DGUOK):c.-60_-57dup rs567251538
NM_080916.2(DGUOK):c.707+3_707+6dupAAGT
NM_080916.3(DGUOK):c.*206_*210dup rs554820333

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