ClinVar Miner

List of variants in gene SUCLA2 reported as uncertain significance for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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Total variants: 129
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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.1220G>T (p.Arg407Leu) rs141295770 0.00022
NM_003850.3(SUCLA2):c.272-13G>C rs367890526 0.00017
NM_003850.3(SUCLA2):c.473G>A (p.Cys158Tyr) rs996879938 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.*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.268T>A (p.Leu90Ile) rs149929505 0.00007
NM_003850.3(SUCLA2):c.*220C>T rs184125665 0.00006
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.1112T>A (p.Leu371Gln) rs777781997 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.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.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.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.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
NM_003850.2(SUCLA2):c.-48G>A rs774191261
NM_003850.2(SUCLA2):c.672_673delinsAG (p.Lys225Glu) rs796052046
NM_003850.3(SUCLA2):c.*331C>A rs776688171
NM_003850.3(SUCLA2):c.*349C>G rs886050258
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.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.1141A>G (p.Ile381Val)
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
NM_003850.3(SUCLA2):c.122A>G (p.His41Arg)
NM_003850.3(SUCLA2):c.1240G>A (p.Asp414Asn)
NM_003850.3(SUCLA2):c.1289G>C (p.Cys430Ser)
NM_003850.3(SUCLA2):c.1313_1314delinsAC (p.Arg438Asn)
NM_003850.3(SUCLA2):c.1327C>T (p.Leu443Phe)
NM_003850.3(SUCLA2):c.1330T>C (p.Ser444Pro)
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.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.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.271+5T>C
NM_003850.3(SUCLA2):c.272-2A>G rs565456094
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.32T>C (p.Val11Ala)
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.391G>T (p.Val131Phe)
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.494G>A (p.Arg165Lys)
NM_003850.3(SUCLA2):c.534+20A>G rs2137742870
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.556T>C (p.Ser186Pro)
NM_003850.3(SUCLA2):c.569T>G (p.Val190Gly)
NM_003850.3(SUCLA2):c.581A>G (p.Asp194Gly)
NM_003850.3(SUCLA2):c.607A>G (p.Ile203Val) rs1949983658
NM_003850.3(SUCLA2):c.620C>G (p.Pro207Arg)
NM_003850.3(SUCLA2):c.664-12T>C rs1251657319
NM_003850.3(SUCLA2):c.664-12T>G
NM_003850.3(SUCLA2):c.689C>T (p.Pro230Leu)
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.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)
NM_003850.3(SUCLA2):c.857A>G (p.Lys286Arg)
NM_003850.3(SUCLA2):c.880T>C (p.Trp294Arg) rs756098740
NM_003850.3(SUCLA2):c.890A>G (p.Glu297Gly)
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.965-20A>G
NM_003850.3(SUCLA2):c.989C>T (p.Ala330Val)
NM_003850.3(SUCLA2):c.997G>C (p.Asp333His) rs972696428

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