ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
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.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_003850.3(SUCLA2):c.45C>T (p.Thr15=) rs35899901 0.00624
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.37G>A (p.Val13Met) rs35201084 0.00371
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_003850.3(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.49C>G (p.Arg17Gly) rs200124902 0.00024
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.21C>T (p.Tyr7=) rs374479008 0.00014
NM_003850.3(SUCLA2):c.1248T>C (p.Ala416=) rs147829455 0.00013
NM_003850.3(SUCLA2):c.663+8G>T rs377144976 0.00013
NM_003850.3(SUCLA2):c.9C>T (p.Ala3=) rs138270687 0.00013
NM_003850.3(SUCLA2):c.15G>A (p.Met5Ile) rs199738859 0.00011
NM_003850.3(SUCLA2):c.268T>A (p.Leu90Ile) rs149929505 0.00010
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.1318-19C>T rs369690029 0.00006
NM_003850.3(SUCLA2):c.78G>A (p.Arg26=) rs1174121047 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.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.36C>G (p.Ala12=) rs771793708 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.80C>T (p.Ala27Val) rs368407554 0.00003
NM_003850.3(SUCLA2):c.90+19C>T rs370867973 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.943G>A (p.Asp315Asn) rs772228438 0.00002
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.1227A>G (p.Gln409=) rs1223638181 0.00001
NM_003850.3(SUCLA2):c.1318-15G>A rs369590382 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.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.58C>T (p.Arg20Trp) rs757550710 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.88C>G (p.Gln30Glu) rs568437392 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)_(49070513_?)del
NC_000013.10:g.(?_48517506)_(49070513_?)dup
NC_000013.10:g.(?_48562656)_(48575405_?)del
NM_003850.2(SUCLA2):c.672_673delinsAG (p.Lys225Glu) rs796052046
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.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.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.272-8T>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.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.35C>T (p.Ala12Val) rs1247189411
NM_003850.3(SUCLA2):c.361A>C (p.Ile121Leu)
NM_003850.3(SUCLA2):c.361A>G (p.Ile121Val) rs1593500612
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.39G>A (p.Val13=) rs894388833
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.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.54C>A (p.Asn18Lys)
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>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.68C>G (p.Thr23Arg) rs538760468
NM_003850.3(SUCLA2):c.68C>T (p.Thr23Met)
NM_003850.3(SUCLA2):c.699G>T (p.Val233=)
NM_003850.3(SUCLA2):c.69G>A (p.Thr23=)
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.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+8A>G
NM_003850.3(SUCLA2):c.803-14T>A
NM_003850.3(SUCLA2):c.81T>G (p.Ala27=) rs1411239127
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.86C>A (p.Ala29Asp)
NM_003850.3(SUCLA2):c.890A>G (p.Glu297Gly)
NM_003850.3(SUCLA2):c.894T>C (p.Asp298=) rs113049148
NM_003850.3(SUCLA2):c.90+14del
NM_003850.3(SUCLA2):c.90+17C>T
NM_003850.3(SUCLA2):c.90+6G>A
NM_003850.3(SUCLA2):c.90+7C>A
NM_003850.3(SUCLA2):c.900G>A (p.Arg300=)
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.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.998A>G (p.Asp333Gly)

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.