ClinVar Miner

List of variants reported as benign for mitochondrial DNA depletion syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.*217T>C rs4941618 0.93675
NM_003849.4(SUCLG1):c.*163T>C rs2832 0.79934
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_080916.3(DGUOK):c.*13A>T rs4777 0.57593
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_004614.5(TK2):c.-38A>G rs3743716 0.25659
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_004614.5(TK2):c.*2221T>C rs3743712 0.13149
NM_004614.5(TK2):c.*765T>C rs880530 0.13122
NM_015713.5(RRM2B):c.*732A>G rs16869269 0.11676
NM_015713.5(RRM2B):c.*866T>G rs29000286 0.11598
NM_015713.5(RRM2B):c.*1673T>G rs16918482 0.11578
NM_004614.5(TK2):c.700-13G>A rs16956600 0.11082
NM_015713.5(RRM2B):c.*1488G>C rs1265116 0.10011
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_005138.3(SCO2):c.-18G>A rs74479613 0.09346
NM_003850.3(SUCLA2):c.*328A>G rs13243 0.08057
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_015713.4(RRM2B):c.-88C>A rs72554091 0.07833
NM_015713.5(RRM2B):c.*998A>G rs3907099 0.06791
NM_015713.5(RRM2B):c.*3593G>A rs29000294 0.06703
NM_015713.5(RRM2B):c.*1277A>T rs5005121 0.06698
NM_015713.5(RRM2B):c.*2666T>C rs3735721 0.06688
NM_004614.5(TK2):c.*2914C>T rs3743711 0.06117
NM_004614.5(TK2):c.156+15T>C rs80083556 0.06072
NM_015713.5(RRM2B):c.*3527G>A rs1052071 0.05633
NM_015713.5(RRM2B):c.*3463C>T rs1052069 0.05623
NM_015713.5(RRM2B):c.*1121T>C rs4102401 0.04883
NM_015713.5(RRM2B):c.*3395C>G rs11575866 0.04883
NM_015713.5(RRM2B):c.*2879A>G rs3204695 0.04874
NM_004614.5(TK2):c.*3786C>T rs74451221 0.04842
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_015713.5(RRM2B):c.*2097T>A rs116394626 0.03190
NM_015713.5(RRM2B):c.*2035A>G rs1055958 0.03186
NM_018238.4(AGK):c.*1175C>T rs71545336 0.02792
NM_015713.5(RRM2B):c.207C>T (p.Val69=) rs28999710 0.02727
NM_015713.4(RRM2B):c.-153G>T rs2290707 0.02697
NM_004614.5(TK2):c.*2419C>T rs74372298 0.02586
NM_015713.4(RRM2B):c.-103G>A rs7844478 0.02404
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_018238.4(AGK):c.*141C>T rs6943245 0.01947
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_080916.3(DGUOK):c.159G>A (p.Thr53=) rs62641680 0.01745
NM_018238.4(AGK):c.*320G>A rs3735282 0.01469
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_015713.5(RRM2B):c.*1953A>G rs11987823 0.01309
NM_015713.5(RRM2B):c.*2136G>A rs139212686 0.01300
NM_015713.5(RRM2B):c.*3555T>C rs29000293 0.01078
NM_018238.4(AGK):c.*1210A>T rs184938991 0.00966
NM_001953.5(TYMP):c.214+13G>A rs74624637 0.00960
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_003849.4(SUCLG1):c.*207A>G rs73942653 0.00784
NM_004614.5(TK2):c.449+14A>C rs144627957 0.00674
NM_003850.3(SUCLA2):c.*581T>G rs74615692 0.00652
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_018238.4(AGK):c.*184C>T rs116500538 0.00466
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_003850.3(SUCLA2):c.789T>C (p.Asp263=) rs57270175 0.00441
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_004614.5(TK2):c.*2450A>G rs35138698 0.00395
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_004614.5(TK2):c.*1959G>A rs145016391 0.00313
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_004614.5(TK2):c.157-12G>A rs117229729 0.00128
NM_003850.2(SUCLA2):c.-34G>T rs373530187 0.00059
NM_003850.3(SUCLA2):c.*205T>C rs149321505 0.00058
NM_004614.5(TK2):c.576G>A (p.Arg192=) rs146963943 0.00055
NM_015713.5(RRM2B):c.*1601A>G rs140164634 0.00048
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645 0.00014
NM_015713.5(RRM2B):c.790-8C>A rs376542259 0.00014
NM_080916.3(DGUOK):c.*119C>T rs576927038 0.00002
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003850.3(SUCLA2):c.*661C>A rs10397
NM_003850.3(SUCLA2):c.*661C>G rs10397
NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr) rs7320366
NM_004614.5(TK2):c.-30C>G rs3743715
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_015713.4(RRM2B):c.-157G>A rs28927991
NM_015713.5(RRM2B):c.*1894dup rs150629554
NM_015713.5(RRM2B):c.*2675A>G rs3735720
NM_018238.4(AGK):c.424-4C>G rs113085050

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.