ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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Total variants: 143
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HGVS dbSNP gnomAD frequency
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_003850.3(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.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_003850.3(SUCLA2):c.1220G>T (p.Arg407Leu) rs141295770 0.00021
NM_003850.3(SUCLA2):c.272-13G>C rs367890526 0.00019
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.473G>A (p.Cys158Tyr) rs996879938 0.00013
NM_003850.3(SUCLA2):c.*252C>T rs772920028 0.00012
NM_003850.2(SUCLA2):c.-12T>G rs753085253 0.00010
NM_003850.3(SUCLA2):c.15G>A (p.Met5Ile) rs199738859 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.268T>A (p.Leu90Ile) rs149929505 0.00007
NM_003850.3(SUCLA2):c.*220C>T rs184125665 0.00006
NM_003850.3(SUCLA2):c.434C>T (p.Thr145Met) rs747966366 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.641T>C (p.Ile214Thr) rs755007042 0.00004
NM_003850.3(SUCLA2):c.*468A>G rs886050256 0.00003
NM_003850.3(SUCLA2):c.122A>G (p.His41Arg) rs753558884 0.00003
NM_003850.3(SUCLA2):c.232A>C (p.Lys78Gln) rs765735446 0.00003
NM_003850.3(SUCLA2):c.556T>C (p.Ser186Pro) rs1047870857 0.00003
NM_003850.3(SUCLA2):c.629T>C (p.Ile210Thr) rs773355734 0.00003
NM_003850.3(SUCLA2):c.80C>T (p.Ala27Val) rs368407554 0.00003
NM_003850.3(SUCLA2):c.90+6G>A rs1051697976 0.00003
NM_003850.3(SUCLA2):c.1327C>T (p.Leu443Phe) rs2541662774 0.00002
NM_003850.3(SUCLA2):c.857A>G (p.Lys286Arg) rs777875387 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.*349C>G rs886050258 0.00001
NM_003850.3(SUCLA2):c.1043T>G (p.Val348Gly) rs1282208356 0.00001
NM_003850.3(SUCLA2):c.1112T>A (p.Leu371Gln) rs777781997 0.00001
NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val) rs754731265 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.147G>C (p.Gln49His) rs1193311577 0.00001
NM_003850.3(SUCLA2):c.167A>G (p.His56Arg) rs751107693 0.00001
NM_003850.3(SUCLA2):c.181A>G (p.Met61Val) rs1950196315 0.00001
NM_003850.3(SUCLA2):c.217A>G (p.Lys73Glu) rs796052048 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.286G>A (p.Val96Met) rs1269468843 0.00001
NM_003850.3(SUCLA2):c.28C>T (p.Leu10=) rs9567973 0.00001
NM_003850.3(SUCLA2):c.32T>C (p.Val11Ala) rs1477595981 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.442A>G (p.Lys148Glu) rs767999493 0.00001
NM_003850.3(SUCLA2):c.467T>G (p.Leu156Trp) rs374513034 0.00001
NM_003850.3(SUCLA2):c.517A>G (p.Met173Val) rs886050264 0.00001
NM_003850.3(SUCLA2):c.520G>C (p.Glu174Gln) rs751953767 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.581A>G (p.Asp194Gly) rs140266653 0.00001
NM_003850.3(SUCLA2):c.58C>T (p.Arg20Trp) rs757550710 0.00001
NM_003850.3(SUCLA2):c.620C>G (p.Pro207Arg) rs758906219 0.00001
NM_003850.3(SUCLA2):c.689C>T (p.Pro230Leu) rs376418361 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.988G>C (p.Ala330Pro) rs1949800529 0.00001
NC_000013.10:g.(?_48517506)_(48517600_?)del
NC_000013.10:g.(?_48517506)_(49070513_?)dup
NC_000013.11:g.47968724_47968725delinsCT rs796052046
NM_003850.2(SUCLA2):c.-48G>A rs774191261
NM_003850.3(SUCLA2):c.*331C>A rs776688171
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.1043T>C (p.Val348Ala) rs1282208356
NM_003850.3(SUCLA2):c.1045G>A (p.Gly349Ser)
NM_003850.3(SUCLA2):c.1046G>T (p.Gly349Val) rs1245036990
NM_003850.3(SUCLA2):c.1055C>T (p.Ala352Val) rs2541673197
NM_003850.3(SUCLA2):c.1087C>G (p.Leu363Val) rs2541673162
NM_003850.3(SUCLA2):c.1099G>T (p.Asp367Tyr) rs117412559
NM_003850.3(SUCLA2):c.1107G>C (p.Lys369Asn)
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.1229-11A>G rs751641929
NM_003850.3(SUCLA2):c.1240G>A (p.Asp414Asn) rs760414248
NM_003850.3(SUCLA2):c.1289G>C (p.Cys430Ser) rs2541667975
NM_003850.3(SUCLA2):c.1313_1314delinsAC (p.Arg438Asn) rs2541667963
NM_003850.3(SUCLA2):c.1330T>C (p.Ser444Pro) rs2541662765
NM_003850.3(SUCLA2):c.13A>G (p.Met5Val) rs1031739823
NM_003850.3(SUCLA2):c.146A>C (p.Gln49Pro) rs2137754169
NM_003850.3(SUCLA2):c.186ATT[1] (p.Leu64del) rs2541715542
NM_003850.3(SUCLA2):c.203G>T (p.Gly68Val) rs1191087490
NM_003850.3(SUCLA2):c.205G>T (p.Val69Phe) rs771599779
NM_003850.3(SUCLA2):c.209C>T (p.Ser70Phe) rs2541715515
NM_003850.3(SUCLA2):c.240A>C (p.Pro80=) rs757232771
NM_003850.3(SUCLA2):c.271+5T>C rs2541715397
NM_003850.3(SUCLA2):c.285_287del (p.Val96del) rs1242061606
NM_003850.3(SUCLA2):c.35C>T (p.Ala12Val) rs1247189411
NM_003850.3(SUCLA2):c.361A>C (p.Ile121Leu) rs1593500612
NM_003850.3(SUCLA2):c.361A>G (p.Ile121Val) rs1593500612
NM_003850.3(SUCLA2):c.36C>T (p.Ala12=) rs771793708
NM_003850.3(SUCLA2):c.370T>C (p.Ser124Pro) rs2137743400
NM_003850.3(SUCLA2):c.391G>T (p.Val131Phe) rs772934054
NM_003850.3(SUCLA2):c.401A>T (p.Gln134Leu)
NM_003850.3(SUCLA2):c.437G>A (p.Gly146Glu) rs2137743042
NM_003850.3(SUCLA2):c.437G>C (p.Gly146Ala) rs2137743042
NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr) rs2541707487
NM_003850.3(SUCLA2):c.460C>G (p.Gln154Glu) rs1950124340
NM_003850.3(SUCLA2):c.494G>A (p.Arg165Lys) rs2541707404
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) rs2541693511
NM_003850.3(SUCLA2):c.54C>A (p.Asn18Lys) rs2541720907
NM_003850.3(SUCLA2):c.569T>G (p.Val190Gly) rs2541693472
NM_003850.3(SUCLA2):c.607A>G (p.Ile203Val) rs1949983658
NM_003850.3(SUCLA2):c.611T>G (p.Ile204Ser)
NM_003850.3(SUCLA2):c.664-12T>C rs1251657319
NM_003850.3(SUCLA2):c.664-12T>G rs1251657319
NM_003850.3(SUCLA2):c.68C>G (p.Thr23Arg) rs538760468
NM_003850.3(SUCLA2):c.68C>T (p.Thr23Met) rs538760468
NM_003850.3(SUCLA2):c.700G>C (p.Glu234Gln)
NM_003850.3(SUCLA2):c.720G>A (p.Met240Ile) rs2541687813
NM_003850.3(SUCLA2):c.721G>A (p.Val241Ile) rs1949937963
NM_003850.3(SUCLA2):c.749A>G (p.Tyr250Cys) rs1949937794
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.775C>G (p.Pro259Ala) rs1949937562
NM_003850.3(SUCLA2):c.802+3A>G rs2137715478
NM_003850.3(SUCLA2):c.802+4A>G rs886050263
NM_003850.3(SUCLA2):c.803-4A>G rs1949803798
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) rs2541673715
NM_003850.3(SUCLA2):c.86C>A (p.Ala29Asp) rs1182235529
NM_003850.3(SUCLA2):c.880T>C (p.Trp294Arg) rs756098740
NM_003850.3(SUCLA2):c.890A>G (p.Glu297Gly) rs2541673613
NM_003850.3(SUCLA2):c.940C>T (p.Leu314Phe) rs2541673532
NM_003850.3(SUCLA2):c.952A>G (p.Ile318Val) rs2541673523
NM_003850.3(SUCLA2):c.953T>C (p.Ile318Thr) rs1949802385
NM_003850.3(SUCLA2):c.965-20A>G rs376116619
NM_003850.3(SUCLA2):c.989C>T (p.Ala330Val) rs1406645366
NM_003850.3(SUCLA2):c.997G>C (p.Asp333His) rs972696428

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