ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome by Illumina Laboratory Services, Illumina

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Total variants: 63
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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_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_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_003849.4(SUCLG1):c.*38C>T rs369617521 0.00014
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_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_003849.4(SUCLG1):c.*218A>G rs570310549 0.00006
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_002437.5(MPV17):c.*194G>A rs886055895 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_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
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_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_080916.3(DGUOK):c.*206_*210dup rs554820333
NM_080918.3(DGUOK):c.444-907AAGT[3]

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