ClinVar Miner

List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 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_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 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_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
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.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg) rs1345325140 0.00001
NM_001278716.2(FBXL4):c.858+5G>C rs1257765682 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.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe) rs1554218821
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu) rs754142863
NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter) rs750973870
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.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.1772A>G (p.Asp591Gly) rs747618415
NM_001278716.2(FBXL4):c.1836del (p.Val613fs) rs751656896
NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu) rs1554215766
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.903T>A (p.Cys301Ter) rs775768793
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) rs1057524366
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) rs1553383467
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro) rs1567191334
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.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.3(POLG):c.2391_2393del (p.Met797del) rs1567187766
NM_002693.3(POLG):c.248T>C (p.Leu83Pro) rs1567194243
NM_002693.3(POLG):c.2555G>A (p.Arg852His) rs1567187093
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg) rs1567187057
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
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.3229T>G (p.Cys1077Gly) rs1567185468
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.3338T>C (p.Leu1113Pro) rs1567185178
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg) rs754844175
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.470T>C (p.Leu157Pro) rs1567194013
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605

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