ClinVar Miner

List of variants studied 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: 550
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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_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
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_080916.2(DGUOK):c.-48G>A rs10186730 0.04865
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_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
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_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
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_080916.3(DGUOK):c.423G>A (p.Glu141=) rs1804599 0.01535
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_018238.4(AGK):c.*320G>A rs3735282 0.01469
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_015713.5(RRM2B):c.*1953A>G rs11987823 0.01309
NM_015713.5(RRM2B):c.*2136G>A rs139212686 0.01300
NM_003849.3(SUCLG1):c.-133C>T rs12621740 0.01126
NM_003850.3(SUCLA2):c.*714dup rs563064046 0.01109
NM_015713.5(RRM2B):c.*3555T>C rs29000293 0.01078
NM_003849.4(SUCLG1):c.201+9A>G rs116492610 0.01020
NM_003849.4(SUCLG1):c.*55G>C rs80166442 0.01010
NM_018238.4(AGK):c.*1210A>T rs184938991 0.00966
NM_001953.5(TYMP):c.214+13G>A rs74624637 0.00960
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_003849.4(SUCLG1):c.*207A>G rs73942653 0.00784
NM_003849.3(SUCLG1):c.-107A>G rs140936198 0.00764
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_004614.5(TK2):c.*2298C>T rs139593959 0.00689
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.*1024C>T rs78124534 0.00609
NM_015713.5(RRM2B):c.*190T>C rs60624814 0.00487
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_015713.5(RRM2B):c.*1351T>C rs114108597 0.00478
NM_018238.4(AGK):c.*184C>T rs116500538 0.00466
NM_004614.5(TK2):c.*760T>G rs149832105 0.00462
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
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_018238.3(AGK):c.-100G>A rs552726046 0.00401
NM_004614.5(TK2):c.*2450A>G rs35138698 0.00395
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_015713.5(RRM2B):c.*2151_*2152insA rs563908556 0.00332
NM_004614.5(TK2):c.*1959G>A rs145016391 0.00313
NM_018238.4(AGK):c.*319del rs142235678 0.00307
NM_018238.4(AGK):c.*933C>T rs73171606 0.00289
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_080916.3(DGUOK):c.123C>G (p.Leu41=) rs145252858 0.00236
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_004614.5(TK2):c.*1333G>T rs187682220 0.00192
NM_002437.5(MPV17):c.*229T>C rs527826929 0.00190
NM_018238.4(AGK):c.*992G>A rs191308473 0.00172
NM_015713.5(RRM2B):c.*3078G>T rs113860402 0.00168
NM_015713.5(RRM2B):c.*817G>A rs190474682 0.00166
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_004614.5(TK2):c.*1740T>C rs548520268 0.00137
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_004614.4(TK2):c.-216G>A rs190131543 0.00132
NM_004614.5(TK2):c.157-12G>A rs117229729 0.00128
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_003849.3(SUCLG1):c.-186G>A rs143151382 0.00122
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_015713.5(RRM2B):c.*11G>A rs29000285 0.00109
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_002437.5(MPV17):c.*34G>A rs147885371 0.00088
NM_015713.5(RRM2B):c.*1596T>C rs182874090 0.00086
NM_002437.5(MPV17):c.*12T>G rs201202659 0.00080
NM_018238.3(AGK):c.-162G>A rs148553992 0.00076
NM_080916.3(DGUOK):c.630G>A (p.Glu210=) rs115206553 0.00075
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) rs141647723 0.00074
NM_004614.5(TK2):c.122C>A (p.Pro41His) rs201904720 0.00073
NM_004614.5(TK2):c.*485C>G rs183596247 0.00065
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_015713.5(RRM2B):c.*1510T>C rs577176343 0.00062
NM_080916.3(DGUOK):c.708-3T>C rs370071744 0.00061
NM_004614.5(TK2):c.*451G>A rs369868888 0.00060
NM_018238.4(AGK):c.*621T>C rs192654792 0.00060
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.*2375G>A rs567482803 0.00055
NM_004614.5(TK2):c.576G>A (p.Arg192=) rs146963943 0.00055
NM_002437.5(MPV17):c.*413A>C rs575276701 0.00054
NM_015713.5(RRM2B):c.*2822A>T rs189278573 0.00051
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_015713.5(RRM2B):c.*1601A>G rs140164634 0.00048
NM_002437.5(MPV17):c.*54C>T rs189632972 0.00046
NM_004614.5(TK2):c.*595G>A rs886052209 0.00046
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) rs139731592 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_015713.5(RRM2B):c.*2236A>T rs566194929 0.00044
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_018238.4(AGK):c.*197C>T rs987287830 0.00043
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_004614.5(TK2):c.*729A>G rs886160476 0.00042
NM_004614.5(TK2):c.*1758del rs886052196 0.00041
NM_004614.5(TK2):c.*2121C>T rs10454065 0.00041
NM_015713.5(RRM2B):c.540A>G (p.Lys180=) rs200301242 0.00041
NM_018238.4(AGK):c.877+14C>T rs41275003 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_004614.5(TK2):c.*833T>G rs373278953 0.00039
NM_015713.5(RRM2B):c.*869G>T rs771055735 0.00039
NM_004614.5(TK2):c.*3193G>A rs768065808 0.00038
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=) rs144969057 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_004614.5(TK2):c.*1443C>A rs577231164 0.00035
NM_004614.5(TK2):c.*1681A>G rs538743722 0.00033
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) rs374594774 0.00027
NM_002437.5(MPV17):c.*72A>C rs768630067 0.00026
NM_004614.5(TK2):c.*3255A>G rs774804296 0.00026
NM_015713.5(RRM2B):c.*3266G>T rs746260787 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) rs369610897 0.00025
NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met) rs201224138 0.00025
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_080916.3(DGUOK):c.664C>T (p.Leu222=) rs375686551 0.00023
NM_018238.4(AGK):c.*1467T>C rs140297904 0.00022
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=) rs371938859 0.00021
NM_004614.5(TK2):c.*2122G>A rs193271947 0.00021
NM_004614.5(TK2):c.*3763G>T rs549738791 0.00021
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) rs149809280 0.00019
NM_018238.4(AGK):c.*1301C>T rs553433680 0.00019
NM_015713.5(RRM2B):c.*1867C>T rs572149875 0.00018
NM_003850.3(SUCLA2):c.272-13G>C rs367890526 0.00017
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_004614.5(TK2):c.*2773C>G rs886052194 0.00016
NM_004614.5(TK2):c.*2902C>T rs532588163 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_004614.5(TK2):c.680C>T (p.Pro227Leu) rs754140768 0.00015
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645 0.00014
NM_003849.4(SUCLG1):c.*38C>T rs369617521 0.00014
NM_003850.3(SUCLA2):c.*380C>T rs879540740 0.00014
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=) rs374479008 0.00014
NM_004614.5(TK2):c.*1292G>A rs561996737 0.00014
NM_004614.5(TK2):c.*327G>A rs575041315 0.00014
NM_015713.5(RRM2B):c.790-8C>A rs376542259 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
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_018238.3(AGK):c.-75G>C rs560194759 0.00013
NM_018238.4(AGK):c.*1127C>A rs886062027 0.00013
NM_018238.4(AGK):c.26G>A (p.Arg9Gln) rs577821330 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_003850.3(SUCLA2):c.*252C>T rs772920028 0.00012
NM_080916.3(DGUOK):c.592-9del rs749290011 0.00012
NM_001953.5(TYMP):c.*10G>A rs369012029 0.00011
NM_001953.5(TYMP):c.*3C>T rs372620403 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_004614.5(TK2):c.*1212C>T rs745307045 0.00011
NM_015713.5(RRM2B):c.*2410C>A rs767476703 0.00011
NM_015713.5(RRM2B):c.*2722A>G rs543127762 0.00011
NM_002437.5(MPV17):c.*366C>T rs539574166 0.00010
NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) rs146834097 0.00010
NM_003850.2(SUCLA2):c.-12T>G rs753085253 0.00010
NM_015713.5(RRM2B):c.*2978A>G rs761021253 0.00010
NM_015713.5(RRM2B):c.*3118T>G rs1010967137 0.00010
NM_015713.5(RRM2B):c.*328G>A rs142449540 0.00010
NM_018238.4(AGK):c.*1237G>A rs202211411 0.00010
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_080916.3(DGUOK):c.-1G>A rs754623273 0.00010
NM_080916.3(DGUOK):c.-21G>T rs200333852 0.00010
NM_080916.3(DGUOK):c.-8T>C rs369681767 0.00010
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_002437.5(MPV17):c.*80C>T rs200529035 0.00009
NM_003850.3(SUCLA2):c.*431G>C rs886050257 0.00009
NM_015713.5(RRM2B):c.*552G>A rs375924434 0.00009
NM_015713.5(RRM2B):c.790-9T>C rs573435546 0.00009
NM_018238.4(AGK):c.-14-3T>C rs371437227 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_080916.3(DGUOK):c.*120G>A rs886056323 0.00009
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_004614.5(TK2):c.620A>T (p.Glu207Val) rs141225776 0.00008
NM_018238.4(AGK):c.*1126T>A rs1269074943 0.00008
NM_001953.5(TYMP):c.-84T>C rs560027665 0.00007
NM_001953.5(TYMP):c.517-15G>A rs372690172 0.00007
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) rs112170670 0.00007
NM_003849.4(SUCLG1):c.319-8T>C rs370790297 0.00007
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) rs146922557 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_003849.4(SUCLG1):c.*218A>G rs570310549 0.00006
NM_003850.3(SUCLA2):c.*220C>T rs184125665 0.00006
NM_004614.5(TK2):c.*2637G>A rs530570863 0.00006
NM_004614.5(TK2):c.*342C>A rs544189950 0.00006
NM_015713.5(RRM2B):c.756G>A (p.Arg252=) rs377736828 0.00006
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_004614.4(TK2):c.-70T>A rs538827481 0.00005
NM_004614.5(TK2):c.*1029T>A rs948674132 0.00005
NM_004614.5(TK2):c.763A>G (p.Ile255Val) rs144419486 0.00005
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) rs147315735 0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_080916.3(DGUOK):c.655C>T (p.Leu219=) rs541642189 0.00005
NM_001953.5(TYMP):c.516+10G>A rs552829713 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_002437.5(MPV17):c.*130G>T rs886055896 0.00004
NM_003850.3(SUCLA2):c.*184G>A rs1461746252 0.00004
NM_003850.3(SUCLA2):c.1074A>C (p.Thr358=) rs746516356 0.00004
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=) rs140383237 0.00004
NM_003850.3(SUCLA2):c.232A>C (p.Lys78Gln) rs765735446 0.00004
NM_004614.5(TK2):c.*1618C>A rs886052200 0.00004
NM_004614.5(TK2):c.*444G>T rs775590447 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_001953.5(TYMP):c.-92C>T rs886057636 0.00003
NM_004614.5(TK2):c.*1597G>A rs1043059553 0.00003
NM_004614.5(TK2):c.*921G>A rs886052205 0.00003
NM_004614.5(TK2):c.414C>T (p.Ser138=) rs773566302 0.00003
NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser) rs201440849 0.00003
NM_018238.4(AGK):c.*241A>G rs914935906 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) rs771700483 0.00002
NM_002437.5(MPV17):c.451C>T (p.Leu151Phe) rs745609578 0.00002
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 0.00002
NM_003850.3(SUCLA2):c.517A>G (p.Met173Val) rs886050264 0.00002
NM_004614.5(TK2):c.*1472A>T rs886052202 0.00002
NM_004614.5(TK2):c.*15A>G rs756911935 0.00002
NM_004614.5(TK2):c.*2146G>A rs963895395 0.00002
NM_004614.5(TK2):c.*3285G>A rs1169766872 0.00002
NM_004614.5(TK2):c.300C>T (p.His100=) rs749383225 0.00002
NM_004614.5(TK2):c.519C>T (p.Asp173=) rs143378852 0.00002
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_015713.5(RRM2B):c.*2885A>G rs29000291 0.00002
NM_015713.5(RRM2B):c.*788T>C rs559700946 0.00002
NM_018238.4(AGK):c.*1319G>A rs535922151 0.00002
NM_018238.4(AGK):c.*758T>C rs1345762130 0.00002
NM_018238.4(AGK):c.-36G>A rs570988835 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_080916.3(DGUOK):c.*119C>T rs576927038 0.00002
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) rs141810774 0.00002
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) rs760529157 0.00001
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) rs145056860 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_001953.5(TYMP):c.930G>A (p.Gly310=) rs773100466 0.00001
NM_002437.5(MPV17):c.*194G>A rs886055895 0.00001
NM_002437.5(MPV17):c.*360G>C rs866206271 0.00001
NM_002437.5(MPV17):c.*367G>A rs997952432 0.00001
NM_002437.5(MPV17):c.-6+8G>A rs886055897 0.00001
NM_002437.5(MPV17):c.390C>G (p.Ala130=) rs760281019 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_003849.4(SUCLG1):c.202-3C>T rs769207281 0.00001
NM_003850.2(SUCLA2):c.-49C>G rs779622050 0.00001
NM_003850.3(SUCLA2):c.*319A>T rs534469197 0.00001
NM_003850.3(SUCLA2):c.1043T>G (p.Val348Gly) rs1282208356 0.00001
NM_003850.3(SUCLA2):c.1318-15G>A rs369590382 0.00001
NM_003850.3(SUCLA2):c.240A>C (p.Pro80=) rs757232771 0.00001
NM_003850.3(SUCLA2):c.274T>G (p.Ser92Ala) rs764915250 0.00001
NM_003850.3(SUCLA2):c.373C>T (p.Pro125Ser) rs770036022 0.00001
NM_003850.3(SUCLA2):c.535-13C>T rs372847680 0.00001
NM_004614.5(TK2):c.*1403A>G rs886052204 0.00001
NM_004614.5(TK2):c.*1455C>G rs886052203 0.00001
NM_004614.5(TK2):c.*1682T>G rs886052199 0.00001
NM_004614.5(TK2):c.*1986G>C rs1435674483 0.00001
NM_004614.5(TK2):c.*200G>T rs926935953 0.00001
NM_004614.5(TK2):c.*2433A>G rs964325376 0.00001
NM_004614.5(TK2):c.*2985G>A rs1185518504 0.00001
NM_004614.5(TK2):c.*3218A>C rs1032599030 0.00001
NM_004614.5(TK2):c.*3331C>T rs138127133 0.00001
NM_004614.5(TK2):c.*3368G>T rs1474245616 0.00001
NM_004614.5(TK2):c.*773C>T rs975262215 0.00001
NM_004614.5(TK2):c.124+6G>C rs772063515 0.00001
NM_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487 0.00001
NM_015713.4(RRM2B):c.-101G>A rs374844049 0.00001
NM_015713.5(RRM2B):c.*1522A>G rs889321989 0.00001
NM_015713.5(RRM2B):c.*1664T>A rs1810545907 0.00001
NM_015713.5(RRM2B):c.*2960G>A rs886062561 0.00001
NM_015713.5(RRM2B):c.*3125T>C rs886062560 0.00001
NM_015713.5(RRM2B):c.*3289A>G rs569359604 0.00001
NM_015713.5(RRM2B):c.-1G>C rs1437655477 0.00001
NM_015713.5(RRM2B):c.162A>G (p.Lys54=) rs746927643 0.00001
NM_015713.5(RRM2B):c.503A>G (p.Lys168Arg) rs886062571 0.00001
NM_018238.3(AGK):c.-88G>C rs886062018 0.00001
NM_018238.4(AGK):c.*1067T>G rs1797627785 0.00001
NM_018238.4(AGK):c.*125C>T rs1211083355 0.00001
NM_018238.4(AGK):c.*265G>A rs886062022 0.00001
NM_018238.4(AGK):c.*58G>A rs562245960 0.00001
NM_018238.4(AGK):c.*662A>G rs760797830 0.00001
NM_018238.4(AGK):c.*97G>T rs1474393370 0.00001
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.637T>C (p.Ser213Pro) rs886062019 0.00001
NM_018238.4(AGK):c.863C>T (p.Ala288Val) rs763068104 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_080916.3(DGUOK):c.*7C>T rs749059686 0.00001
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787 0.00001
NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr) rs138683121 0.00001
NM_080916.3(DGUOK):c.492C>T (p.Ile164=) rs148915942 0.00001
NM_080916.3(DGUOK):c.705G>A (p.Thr235=) rs866403196 0.00001
NM_001257988.1(TYMP):c.-185C>G rs886057637
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.-20C>T rs1040337014
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) rs2069332918
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) rs768582480
NM_001953.5(TYMP):c.214+6_214+7del rs753466981
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) rs377572658
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) rs775841111
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) rs769568725
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) rs781163498
NM_001953.5(TYMP):c.516+14C>T rs780757016
NM_001953.5(TYMP):c.516+4C>T rs369574115
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) rs367723039
NM_001953.5(TYMP):c.647-8C>T rs753922795
NM_001953.5(TYMP):c.756A>C (p.Ala252=) rs886057635
NM_001953.5(TYMP):c.766-10C>T rs886057634
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg) rs1412132331
NM_002437.5(MPV17):c.*188A>G rs1679355078
NM_002437.5(MPV17):c.*347C>T rs144697795
NM_002437.5(MPV17):c.*351C>T rs1679346714
NM_002437.5(MPV17):c.-11G>C rs886055898
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
NM_002437.5(MPV17):c.223C>G (p.Arg75Gly) rs370061168
NM_002437.5(MPV17):c.291C>T (p.Ala97=) rs1679491926
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.*126G>A rs1672489386
NM_003849.4(SUCLG1):c.*13del rs527774382
NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs) rs1308442327
NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) rs564792232
NM_003849.4(SUCLG1):c.41T>C (p.Met14Thr) rs1369567672
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_003850.2(SUCLA2):c.-48G>A rs774191261
NM_003850.3(SUCLA2):c.*195A>G rs886050260
NM_003850.3(SUCLA2):c.*294TTC[1] rs886050259
NM_003850.3(SUCLA2):c.*331C>A rs776688171
NM_003850.3(SUCLA2):c.*349C>G rs886050258
NM_003850.3(SUCLA2):c.*35T>G rs886050261
NM_003850.3(SUCLA2):c.*391A>G rs1949697603
NM_003850.3(SUCLA2):c.*434T>G rs1949697193
NM_003850.3(SUCLA2):c.*435A>G rs1949697178
NM_003850.3(SUCLA2):c.*468A>G rs886050256
NM_003850.3(SUCLA2):c.*661C>A rs10397
NM_003850.3(SUCLA2):c.*661C>G rs10397
NM_003850.3(SUCLA2):c.272-2A>G rs565456094
NM_003850.3(SUCLA2):c.36C>T (p.Ala12=) rs771793708
NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr) rs7320366
NM_003850.3(SUCLA2):c.664-12T>C rs1251657319
NM_003850.3(SUCLA2):c.68C>G (p.Thr23Arg) rs538760468
NM_003850.3(SUCLA2):c.802+4A>G rs886050263
NM_003850.3(SUCLA2):c.803-4A>G rs1949803798
NM_003850.3(SUCLA2):c.817G>A (p.Ala273Thr) rs886050262
NM_004614.5(TK2):c.*1044C>A rs879622108
NM_004614.5(TK2):c.*1463T>G rs1964420428
NM_004614.5(TK2):c.*1591dup rs886052201
NM_004614.5(TK2):c.*1671G>C rs1964415276
NM_004614.5(TK2):c.*1738C>T rs886052198
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.*223G>A rs904749580
NM_004614.5(TK2):c.*2540G>T rs574199934
NM_004614.5(TK2):c.*2944G>T rs1280782133
NM_004614.5(TK2):c.*3438G>A rs745480813
NM_004614.5(TK2):c.*615A>C rs886052208
NM_004614.5(TK2):c.*688C>T rs886052207
NM_004614.5(TK2):c.*809C>T rs886052206
NM_004614.5(TK2):c.-30C>G rs3743715
NM_004614.5(TK2):c.-43G>C rs1197038268
NM_004614.5(TK2):c.-48G>A rs781512555
NM_004614.5(TK2):c.125-13C>T rs1373389153
NM_004614.5(TK2):c.125A>C (p.Asp42Ala) rs763416136
NM_004614.5(TK2):c.288C>T (p.Gly96=) rs886052211
NM_004614.5(TK2):c.450-13A>G rs886052210
NM_004614.5(TK2):c.547C>G (p.Arg183Gly) rs137886900
NM_004614.5(TK2):c.699+13C>T rs373230604
NM_004614.5(TK2):c.760C>T (p.Arg254Ter) rs281865498
NM_005138.3(SCO2):c.-135_-132dup rs143413019
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_015713.4(RRM2B):c.-157G>A rs28927991
NM_015713.4(RRM2B):c.-193G>C rs1325086159
NM_015713.5(RRM2B):c.*1337G>C rs962002084
NM_015713.5(RRM2B):c.*1451A>C rs11575864
NM_015713.5(RRM2B):c.*1552T>C rs1051017101
NM_015713.5(RRM2B):c.*1717T>A rs886062566
NM_015713.5(RRM2B):c.*1894dup rs150629554
NM_015713.5(RRM2B):c.*2328A>T rs886062565
NM_015713.5(RRM2B):c.*247G>A rs886062568
NM_015713.5(RRM2B):c.*2492AAGTT[1] rs886062564
NM_015713.5(RRM2B):c.*2513T>C rs866323859
NM_015713.5(RRM2B):c.*2675A>G rs3735720
NM_015713.5(RRM2B):c.*2728G>A rs1810526776
NM_015713.5(RRM2B):c.*2809G>A rs886062562
NM_015713.5(RRM2B):c.*2991C>T rs972415772
NM_015713.5(RRM2B):c.*2995A>T rs1810522232
NM_015713.5(RRM2B):c.*3003_*3004del rs552260099
NM_015713.5(RRM2B):c.*3250G>C rs1279038036
NM_015713.5(RRM2B):c.*3473A>G rs1810512728
NM_015713.5(RRM2B):c.*3489A>G rs540839717
NM_015713.5(RRM2B):c.*3577G>T rs779768316
NM_015713.5(RRM2B):c.*436A>G rs1810567744
NM_015713.5(RRM2B):c.*485A>C rs531379490
NM_015713.5(RRM2B):c.*73A>T rs886062570
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.*855C>G rs886062567
NM_015713.5(RRM2B):c.*895G>A rs1810559850
NM_015713.5(RRM2B):c.472G>A (p.Ala158Thr)
NM_018238.3(AGK):c.-139G>A rs886062017
NM_018238.4(AGK):c.*1006T>C rs1387554008
NM_018238.4(AGK):c.*1233_*1236del rs886062028
NM_018238.4(AGK):c.*1308_*1311del rs886062029
NM_018238.4(AGK):c.*1331_*1334del rs886062030
NM_018238.4(AGK):c.*231C>T rs1797606303
NM_018238.4(AGK):c.*354CTT[1] rs886062023
NM_018238.4(AGK):c.*364C>G rs368718308
NM_018238.4(AGK):c.*365G>A rs886062024
NM_018238.4(AGK):c.*463_*466dup rs143849281
NM_018238.4(AGK):c.*754G>A rs1797619409
NM_018238.4(AGK):c.*82_*83del rs886062021
NM_018238.4(AGK):c.*967T>C rs886062026
NM_018238.4(AGK):c.1098C>T (p.Leu366=) rs369042931
NM_018238.4(AGK):c.217A>G (p.Lys73Glu) rs1796233762
NM_018238.4(AGK):c.355A>G (p.Ile119Val) rs180770509
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018238.4(AGK):c.763A>G (p.Thr255Ala) rs886062020
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.976-9C>T rs746375297
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*472GA[2] rs370783985
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-306GT[1] rs146265037
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
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
NM_080916.3(DGUOK):c.142+1G>T rs886056321
NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) rs757043357
NM_080916.3(DGUOK):c.684C>G (p.Ala228=) rs1683176274
NM_080916.3(DGUOK):c.9G>T (p.Ala3=) rs1306395752

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