ClinVar Miner

List of variants in gene SUCLA2 studied for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 266
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.*217T>C rs4941618 0.93675
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
NM_003850.3(SUCLA2):c.*328A>G rs13243 0.08057
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_003850.3(SUCLA2):c.*714dup rs563064046 0.01109
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_003850.3(SUCLA2):c.*581T>G rs74615692 0.00652
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_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) rs141647723 0.00074
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_003850.2(SUCLA2):c.-34G>T rs373530187 0.00059
NM_003850.3(SUCLA2):c.*205T>C rs149321505 0.00058
NM_003850.3(SUCLA2):c.660C>T (p.Leu220=) rs148794726 0.00051
NM_003850.3(SUCLA2):c.255A>G (p.Ala85=) rs149108442 0.00048
NM_003850.3(SUCLA2):c.372-6T>C rs139004670 0.00045
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=) rs144969057 0.00036
NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg) rs144441199 0.00025
NM_003850.3(SUCLA2):c.1220G>T (p.Arg407Leu) rs141295770 0.00022
NM_003850.3(SUCLA2):c.272-13G>C rs367890526 0.00017
NM_003850.3(SUCLA2):c.942C>T (p.Leu314=) rs368442407 0.00017
NM_003850.3(SUCLA2):c.965-20A>C rs376116619 0.00017
NM_003850.3(SUCLA2):c.473G>A (p.Cys158Tyr) rs996879938 0.00015
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_003850.3(SUCLA2):c.*380C>T rs879540740 0.00014
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=) rs374479008 0.00014
NM_003850.3(SUCLA2):c.1248T>C (p.Ala416=) rs147829455 0.00013
NM_003850.3(SUCLA2):c.9C>T (p.Ala3=) rs138270687 0.00013
NM_003850.3(SUCLA2):c.*252C>T rs772920028 0.00012
NM_003850.3(SUCLA2):c.15G>A (p.Met5Ile) rs199738859 0.00011
NM_003850.2(SUCLA2):c.-12T>G rs753085253 0.00010
NM_003850.3(SUCLA2):c.*431G>C rs886050257 0.00009
NM_003850.3(SUCLA2):c.1076A>C (p.Glu359Ala) rs150996983 0.00008
NM_003850.3(SUCLA2):c.705A>T (p.Ser235=) rs750614246 0.00008
NM_003850.3(SUCLA2):c.268T>A (p.Leu90Ile) rs149929505 0.00007
NM_003850.3(SUCLA2):c.*220C>T rs184125665 0.00006
NM_003850.3(SUCLA2):c.1318-19C>T rs369690029 0.00006
NM_003850.3(SUCLA2):c.663+8G>T rs377144976 0.00006
NM_003850.3(SUCLA2):c.272-10T>C rs374732113 0.00005
NM_003850.3(SUCLA2):c.732C>T (p.Tyr244=) rs758228265 0.00005
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.132A>C (p.Gln44His) rs146794237 0.00004
NM_003850.3(SUCLA2):c.232A>C (p.Lys78Gln) rs765735446 0.00004
NM_003850.3(SUCLA2):c.641T>C (p.Ile214Thr) rs755007042 0.00004
NM_003850.3(SUCLA2):c.629T>C (p.Ile210Thr) rs773355734 0.00003
NM_003850.3(SUCLA2):c.750C>T (p.Tyr250=) rs765245532 0.00003
NM_003850.3(SUCLA2):c.1112T>A (p.Leu371Gln) rs777781997 0.00002
NM_003850.3(SUCLA2):c.1239C>T (p.Val413=) rs765465308 0.00002
NM_003850.3(SUCLA2):c.1335A>G (p.Glu445=) rs778280630 0.00002
NM_003850.3(SUCLA2):c.435G>A (p.Thr145=) rs778919386 0.00002
NM_003850.3(SUCLA2):c.517A>G (p.Met173Val) rs886050264 0.00002
NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn) rs772228438 0.00002
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.1089T>G (p.Leu363=) rs1302894616 0.00001
NM_003850.3(SUCLA2):c.1108-19C>T rs1187637724 0.00001
NM_003850.3(SUCLA2):c.1147C>T (p.Arg383Cys) rs781744671 0.00001
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp) rs1233249991 0.00001
NM_003850.3(SUCLA2):c.1227A>G (p.Gln409=) rs1223638181 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.272-5T>G rs1484084388 0.00001
NM_003850.3(SUCLA2):c.274T>G (p.Ser92Ala) rs764915250 0.00001
NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs) rs1425790333 0.00001
NM_003850.3(SUCLA2):c.373C>T (p.Pro125Ser) rs770036022 0.00001
NM_003850.3(SUCLA2):c.398C>T (p.Ser133Leu) rs1430676159 0.00001
NM_003850.3(SUCLA2):c.467T>G (p.Leu156Trp) rs374513034 0.00001
NM_003850.3(SUCLA2):c.478C>T (p.Arg160Ter) rs1950124035 0.00001
NM_003850.3(SUCLA2):c.520G>C (p.Glu174Gln) rs751953767 0.00001
NM_003850.3(SUCLA2):c.534+1G>A rs113994161 0.00001
NM_003850.3(SUCLA2):c.535-13C>T rs372847680 0.00001
NM_003850.3(SUCLA2):c.563G>A (p.Gly188Asp) rs774249904 0.00001
NM_003850.3(SUCLA2):c.572A>G (p.Asn191Ser) rs764108833 0.00001
NM_003850.3(SUCLA2):c.804A>G (p.Val268=) rs761518468 0.00001
NM_003850.3(SUCLA2):c.819A>C (p.Ala273=) rs1593479902 0.00001
NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys) rs121908538 0.00001
NM_003850.3(SUCLA2):c.8C>T (p.Ala3Val) rs1250302678 0.00001
NM_003850.3(SUCLA2):c.916A>C (p.Lys306Gln) rs775767182 0.00001
NM_003850.3(SUCLA2):c.930C>T (p.Asn310=) rs777283889 0.00001
NM_003850.3(SUCLA2):c.964+17T>C rs779776982 0.00001
NM_003850.3(SUCLA2):c.988G>C (p.Ala330Pro) rs1949800529 0.00001
NC_000013.10:g.(?_48517506)_(48517600_?)del
NC_000013.10:g.(?_48517506)_(48575405_?)del
NC_000013.10:g.(?_48562656)_(48575405_?)del
NM_003850.2(SUCLA2):c.-48G>A rs774191261
NM_003850.2(SUCLA2):c.672_673delinsAG (p.Lys225Glu) rs796052046
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.1043T>C (p.Val348Ala) rs1282208356
NM_003850.3(SUCLA2):c.1046G>T (p.Gly349Val)
NM_003850.3(SUCLA2):c.1055C>T (p.Ala352Val)
NM_003850.3(SUCLA2):c.1087C>G (p.Leu363Val)
NM_003850.3(SUCLA2):c.1099G>T (p.Asp367Tyr)
NM_003850.3(SUCLA2):c.1107+10G>C rs2137694016
NM_003850.3(SUCLA2):c.1107+11G>C
NM_003850.3(SUCLA2):c.1107+19A>G
NM_003850.3(SUCLA2):c.1107+7G>C
NM_003850.3(SUCLA2):c.1108-1G>A
NM_003850.3(SUCLA2):c.1108-4A>G
NM_003850.3(SUCLA2):c.1108-4A>T rs374695363
NM_003850.3(SUCLA2):c.1108-9T>C
NM_003850.3(SUCLA2):c.1134del (p.Phe378fs) rs2137688148
NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)
NM_003850.3(SUCLA2):c.1143C>T (p.Ile381=)
NM_003850.3(SUCLA2):c.1188A>G (p.Lys396=)
NM_003850.3(SUCLA2):c.1209T>A (p.Pro403=)
NM_003850.3(SUCLA2):c.121C>G (p.His41Asp) rs1950197011
NM_003850.3(SUCLA2):c.1220_1225del (p.Arg407_Leu408del) rs771715336
NM_003850.3(SUCLA2):c.1225C>T (p.Gln409Ter) rs2137688022
NM_003850.3(SUCLA2):c.1228+15T>C
NM_003850.3(SUCLA2):c.1228+8T>C
NM_003850.3(SUCLA2):c.1229-11A>G
NM_003850.3(SUCLA2):c.1229-15A>G
NM_003850.3(SUCLA2):c.1229-16C>T
NM_003850.3(SUCLA2):c.1229-9C>A
NM_003850.3(SUCLA2):c.122A>G (p.His41Arg)
NM_003850.3(SUCLA2):c.1240G>A (p.Asp414Asn)
NM_003850.3(SUCLA2):c.1248T>A (p.Ala416=)
NM_003850.3(SUCLA2):c.1251G>A (p.Lys417=)
NM_003850.3(SUCLA2):c.1263G>A (p.Ala421=) rs765178650
NM_003850.3(SUCLA2):c.1289G>C (p.Cys430Ser)
NM_003850.3(SUCLA2):c.1313_1314delinsAC (p.Arg438Asn)
NM_003850.3(SUCLA2):c.1317+9G>T
NM_003850.3(SUCLA2):c.1318-10T>A
NM_003850.3(SUCLA2):c.1318-11T>G
NM_003850.3(SUCLA2):c.1318-12C>G
NM_003850.3(SUCLA2):c.1318-15G>C
NM_003850.3(SUCLA2):c.1327C>T (p.Leu443Phe)
NM_003850.3(SUCLA2):c.1330T>C (p.Ser444Pro)
NM_003850.3(SUCLA2):c.1332T>C (p.Ser444=)
NM_003850.3(SUCLA2):c.1353G>A (p.Lys451=) rs754141542
NM_003850.3(SUCLA2):c.1365G>A (p.Val455=)
NM_003850.3(SUCLA2):c.13A>G (p.Met5Val)
NM_003850.3(SUCLA2):c.146A>C (p.Gln49Pro) rs2137754169
NM_003850.3(SUCLA2):c.147G>C (p.Gln49His)
NM_003850.3(SUCLA2):c.165A>G (p.Leu55=)
NM_003850.3(SUCLA2):c.167A>G (p.His56Arg)
NM_003850.3(SUCLA2):c.181A>G (p.Met61Val)
NM_003850.3(SUCLA2):c.186ATT[1] (p.Leu64del)
NM_003850.3(SUCLA2):c.18C>T (p.Phe6=)
NM_003850.3(SUCLA2):c.190T>C (p.Leu64=)
NM_003850.3(SUCLA2):c.203G>T (p.Gly68Val)
NM_003850.3(SUCLA2):c.205G>T (p.Val69Phe) rs771599779
NM_003850.3(SUCLA2):c.209C>T (p.Ser70Phe)
NM_003850.3(SUCLA2):c.217A>G (p.Lys73Glu) rs796052048
NM_003850.3(SUCLA2):c.21C>G (p.Tyr7Ter)
NM_003850.3(SUCLA2):c.251dup (p.Tyr84Ter) rs1309421397
NM_003850.3(SUCLA2):c.268T>C (p.Leu90=) rs149929505
NM_003850.3(SUCLA2):c.271+13G>A
NM_003850.3(SUCLA2):c.271+16A>C
NM_003850.3(SUCLA2):c.271+5T>C
NM_003850.3(SUCLA2):c.272-17A>C
NM_003850.3(SUCLA2):c.272-18G>A
NM_003850.3(SUCLA2):c.272-20T>A
NM_003850.3(SUCLA2):c.272-2A>G rs565456094
NM_003850.3(SUCLA2):c.272-8T>C
NM_003850.3(SUCLA2):c.27G>A (p.Arg9=)
NM_003850.3(SUCLA2):c.285C>A (p.Val95=)
NM_003850.3(SUCLA2):c.285C>T (p.Val95=)
NM_003850.3(SUCLA2):c.285_287del (p.Val96del)
NM_003850.3(SUCLA2):c.286G>A (p.Val96Met)
NM_003850.3(SUCLA2):c.28C>T (p.Leu10=)
NM_003850.3(SUCLA2):c.299A>C (p.Gln100Pro) rs2137743496
NM_003850.3(SUCLA2):c.315T>C (p.Gly105=)
NM_003850.3(SUCLA2):c.321A>G (p.Gly107=) rs1397436892
NM_003850.3(SUCLA2):c.32T>C (p.Val11Ala)
NM_003850.3(SUCLA2):c.345C>T (p.Leu115=)
NM_003850.3(SUCLA2):c.352G>A (p.Gly118Arg) rs121908537
NM_003850.3(SUCLA2):c.361A>C (p.Ile121Leu)
NM_003850.3(SUCLA2):c.361A>G (p.Ile121Val) rs1593500612
NM_003850.3(SUCLA2):c.370T>C (p.Ser124Pro) rs2137743400
NM_003850.3(SUCLA2):c.371+1G>C rs985896883
NM_003850.3(SUCLA2):c.372-7_372-6del
NM_003850.3(SUCLA2):c.391G>T (p.Val131Phe)
NM_003850.3(SUCLA2):c.418T>C (p.Leu140=)
NM_003850.3(SUCLA2):c.434C>T (p.Thr145Met)
NM_003850.3(SUCLA2):c.437G>A (p.Gly146Glu)
NM_003850.3(SUCLA2):c.437G>C (p.Gly146Ala) rs2137743042
NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)
NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)
NM_003850.3(SUCLA2):c.460C>G (p.Gln154Glu)
NM_003850.3(SUCLA2):c.466T>C (p.Leu156=)
NM_003850.3(SUCLA2):c.494G>A (p.Arg165Lys)
NM_003850.3(SUCLA2):c.534+20A>G rs2137742870
NM_003850.3(SUCLA2):c.534+7A>G rs1950123508
NM_003850.3(SUCLA2):c.534A>T (p.Gln178His) rs2137742910
NM_003850.3(SUCLA2):c.535-3C>T rs867170752
NM_003850.3(SUCLA2):c.547_549del (p.Ile183del)
NM_003850.3(SUCLA2):c.552A>T (p.Gly184=) rs576129571
NM_003850.3(SUCLA2):c.556T>C (p.Ser186Pro)
NM_003850.3(SUCLA2):c.569T>G (p.Val190Gly)
NM_003850.3(SUCLA2):c.570C>G (p.Val190=)
NM_003850.3(SUCLA2):c.581A>G (p.Asp194Gly)
NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr) rs7320366
NM_003850.3(SUCLA2):c.607A>G (p.Ile203Val) rs1949983658
NM_003850.3(SUCLA2):c.620C>G (p.Pro207Arg)
NM_003850.3(SUCLA2):c.627T>C (p.Asp209=)
NM_003850.3(SUCLA2):c.651A>G (p.Glu217=) rs1949983274
NM_003850.3(SUCLA2):c.663+13C>T rs758939910
NM_003850.3(SUCLA2):c.663+14C>T
NM_003850.3(SUCLA2):c.663+16G>A
NM_003850.3(SUCLA2):c.664-11_664-10del rs1491338232
NM_003850.3(SUCLA2):c.664-12T>C rs1251657319
NM_003850.3(SUCLA2):c.664-12T>G
NM_003850.3(SUCLA2):c.664-7A>T
NM_003850.3(SUCLA2):c.675G>A (p.Lys225=)
NM_003850.3(SUCLA2):c.689C>T (p.Pro230Leu)
NM_003850.3(SUCLA2):c.699G>T (p.Val233=)
NM_003850.3(SUCLA2):c.720G>A (p.Met240Ile)
NM_003850.3(SUCLA2):c.721G>A (p.Val241Ile)
NM_003850.3(SUCLA2):c.749A>G (p.Tyr250Cys)
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.768A>G (p.Glu256=)
NM_003850.3(SUCLA2):c.775C>G (p.Pro259Ala) rs1949937562
NM_003850.3(SUCLA2):c.789_802+29delinsATAAA rs2137715433
NM_003850.3(SUCLA2):c.802+10C>T
NM_003850.3(SUCLA2):c.802+18G>A
NM_003850.3(SUCLA2):c.802+3A>G rs2137715478
NM_003850.3(SUCLA2):c.802+4A>G rs886050263
NM_003850.3(SUCLA2):c.802+8A>G
NM_003850.3(SUCLA2):c.803-14T>A
NM_003850.3(SUCLA2):c.803-4A>G rs1949803798
NM_003850.3(SUCLA2):c.814G>C (p.Asp272His) rs2137694642
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_003850.3(SUCLA2):c.817G>A (p.Ala273Thr) rs886050262
NM_003850.3(SUCLA2):c.828T>G (p.Asn276Lys)
NM_003850.3(SUCLA2):c.852C>T (p.Arg284=)
NM_003850.3(SUCLA2):c.857A>G (p.Lys286Arg)
NM_003850.3(SUCLA2):c.880T>C (p.Trp294Arg) rs756098740
NM_003850.3(SUCLA2):c.887del (p.Gln296fs) rs1593479845
NM_003850.3(SUCLA2):c.890A>G (p.Glu297Gly)
NM_003850.3(SUCLA2):c.894T>C (p.Asp298=) rs113049148
NM_003850.3(SUCLA2):c.900G>A (p.Arg300=)
NM_003850.3(SUCLA2):c.91-10A>G rs754813556
NM_003850.3(SUCLA2):c.91-13C>G
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003850.3(SUCLA2):c.937G>A (p.Gly313Ser) rs576801606
NM_003850.3(SUCLA2):c.940C>T (p.Leu314Phe)
NM_003850.3(SUCLA2):c.952A>G (p.Ile318Val)
NM_003850.3(SUCLA2):c.953T>C (p.Ile318Thr)
NM_003850.3(SUCLA2):c.960C>T (p.Cys320=)
NM_003850.3(SUCLA2):c.964+1G>A
NM_003850.3(SUCLA2):c.965-13T>C
NM_003850.3(SUCLA2):c.965-17C>G rs990951126
NM_003850.3(SUCLA2):c.965-20A>G
NM_003850.3(SUCLA2):c.965-20_965-16del
NM_003850.3(SUCLA2):c.965-6A>G
NM_003850.3(SUCLA2):c.965-8C>T rs1225032007
NM_003850.3(SUCLA2):c.989C>T (p.Ala330Val)
NM_003850.3(SUCLA2):c.997G>C (p.Asp333His) rs972696428
NM_003850.3(SUCLA2):c.997G>T (p.Asp333Tyr) rs972696428
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)

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