ClinVar Miner

List of variants reported as likely benign for mitochondrial DNA depletion syndrome, encephalomyopathic form

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 235
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_003849.3(SUCLG1):c.-133C>T rs12621740 0.01126
NM_003849.4(SUCLG1):c.201+9A>G rs116492610 0.01020
NM_003849.4(SUCLG1):c.*55G>C rs80166442 0.01010
NM_015713.5(RRM2B):c.48+273G>T rs149523343 0.00928
NM_015713.5(RRM2B):c.*190T>C rs60624814 0.00487
NM_001278716.2(FBXL4):c.429A>G (p.Leu143=) rs17058965 0.00480
NM_015713.5(RRM2B):c.*1351T>C rs114108597 0.00478
NM_015713.5(RRM2B):c.48+265C>G rs550765773 0.00178
NM_015713.5(RRM2B):c.48+48C>T rs201028777 0.00142
NM_015713.5(RRM2B):c.685-20A>T rs142382577 0.00104
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_015713.5(RRM2B):c.*1596T>C rs182874090 0.00086
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.551-18C>T rs72554100 0.00062
NM_003850.3(SUCLA2):c.255A>G (p.Ala85=) rs149108442 0.00048
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) rs139731592 0.00045
NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys) rs145106503 0.00045
NM_003850.3(SUCLA2):c.372-6T>C rs139004670 0.00045
NM_015713.5(RRM2B):c.*2236A>T rs566194929 0.00044
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=) rs144969057 0.00036
NM_003849.4(SUCLG1):c.97+17C>T rs113923257 0.00035
NM_003849.4(SUCLG1):c.98-18T>G rs747785763 0.00031
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) rs374594774 0.00027
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) rs369610897 0.00025
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=) rs371938859 0.00021
NM_015713.5(RRM2B):c.*1867C>T rs572149875 0.00018
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_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=) rs374479008 0.00014
NM_015713.5(RRM2B):c.790-8C>A rs376542259 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_003849.4(SUCLG1):c.63C>A (p.Leu21=) rs982734922 0.00012
NM_003849.4(SUCLG1):c.98-19T>G rs1203068688 0.00012
NM_003849.4(SUCLG1):c.102G>A (p.Pro34=) rs767975978 0.00011
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_003850.3(SUCLA2):c.705A>T (p.Ser235=) rs750614246 0.00008
NM_003849.4(SUCLG1):c.319-8T>C rs370790297 0.00007
NM_003849.4(SUCLG1):c.98-8C>A rs754389067 0.00007
NM_003849.4(SUCLG1):c.116G>A (p.Arg39Gln) rs372512876 0.00006
NM_003849.4(SUCLG1):c.202-12T>A rs762549452 0.00006
NM_003849.4(SUCLG1):c.319-13G>A rs374236377 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.78G>A (p.Arg26=) rs1174121047 0.00006
NM_003849.4(SUCLG1):c.319-17C>T rs368112738 0.00005
NM_003850.3(SUCLA2):c.272-10T>C rs374732113 0.00005
NM_003850.3(SUCLA2):c.732C>T (p.Tyr244=) rs758228265 0.00005
NM_003849.4(SUCLG1):c.826-8del rs1176620455 0.00004
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=) rs140383237 0.00004
NM_003850.3(SUCLA2):c.36C>G (p.Ala12=) rs771793708 0.00004
NM_003850.3(SUCLA2):c.750C>T (p.Tyr250=) rs765245532 0.00003
NM_003850.3(SUCLA2):c.90+19C>T rs370867973 0.00003
NM_003849.4(SUCLG1):c.1015-18T>A rs961127893 0.00002
NM_003849.4(SUCLG1):c.652T>C (p.Leu218=) rs776610464 0.00002
NM_003849.4(SUCLG1):c.69C>T (p.Ala23=) rs866015308 0.00002
NM_003849.4(SUCLG1):c.888A>G (p.Arg296=) rs555884621 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_003849.4(SUCLG1):c.153T>C (p.Tyr51=) rs1404476699 0.00001
NM_003849.4(SUCLG1):c.201+8T>A rs764185628 0.00001
NM_003849.4(SUCLG1):c.234T>C (p.Tyr78=) rs141150411 0.00001
NM_003849.4(SUCLG1):c.519T>C (p.Pro173=) rs776695932 0.00001
NM_003849.4(SUCLG1):c.531+7G>A rs1361184240 0.00001
NM_003849.4(SUCLG1):c.735C>T (p.Asn245=) rs377483465 0.00001
NM_003849.4(SUCLG1):c.825+14T>C rs781113881 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.1318-15G>A rs369590382 0.00001
NM_003850.3(SUCLA2):c.535-13C>T rs372847680 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.930C>T (p.Asn310=) rs777283889 0.00001
NM_003850.3(SUCLA2):c.964+17T>C rs779776982 0.00001
NM_015713.5(RRM2B):c.322-7T>C rs570137520 0.00001
NM_001278716.2(FBXL4):c.1104-2646A>G
NM_003849.3(SUCLG1):c.-39C>A rs144946502
NM_003849.4(SUCLG1):c.1005G>A (p.Thr335=)
NM_003849.4(SUCLG1):c.1015-14T>G
NM_003849.4(SUCLG1):c.1015-23CT[6]
NM_003849.4(SUCLG1):c.1015-6C>T
NM_003849.4(SUCLG1):c.119A>G (p.His40Arg)
NM_003849.4(SUCLG1):c.12C>A (p.Thr4=)
NM_003849.4(SUCLG1):c.12C>T (p.Thr4=)
NM_003849.4(SUCLG1):c.132A>G (p.Thr44=)
NM_003849.4(SUCLG1):c.159T>C (p.Asp53=) rs138470502
NM_003849.4(SUCLG1):c.18C>T (p.Ala6=) rs1348896779
NM_003849.4(SUCLG1):c.202-14C>T
NM_003849.4(SUCLG1):c.202-8C>T rs1342114001
NM_003849.4(SUCLG1):c.240C>G (p.Thr80=)
NM_003849.4(SUCLG1):c.242A>C (p.Lys81Thr) rs564792232
NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) rs564792232
NM_003849.4(SUCLG1):c.246C>T (p.Leu82=)
NM_003849.4(SUCLG1):c.24C>A (p.Ala8=) rs1000084551
NM_003849.4(SUCLG1):c.24C>T (p.Ala8=)
NM_003849.4(SUCLG1):c.264A>T (p.Pro88=)
NM_003849.4(SUCLG1):c.285T>C (p.His95=)
NM_003849.4(SUCLG1):c.318+17G>C rs1468404675
NM_003849.4(SUCLG1):c.318+19G>A
NM_003849.4(SUCLG1):c.318+9T>A rs2104256496
NM_003849.4(SUCLG1):c.319-16G>A
NM_003849.4(SUCLG1):c.319-16G>T
NM_003849.4(SUCLG1):c.319-20C>G
NM_003849.4(SUCLG1):c.319-4T>G
NM_003849.4(SUCLG1):c.342G>A (p.Thr114=)
NM_003849.4(SUCLG1):c.348T>C (p.Ser116=)
NM_003849.4(SUCLG1):c.366G>A (p.Pro122=)
NM_003849.4(SUCLG1):c.435A>G (p.Glu145=)
NM_003849.4(SUCLG1):c.444C>T (p.Pro148=)
NM_003849.4(SUCLG1):c.45C>T (p.Val15=)
NM_003849.4(SUCLG1):c.483C>T (p.Arg161=)
NM_003849.4(SUCLG1):c.501A>T (p.Leu167=)
NM_003849.4(SUCLG1):c.522A>C (p.Gly174=)
NM_003849.4(SUCLG1):c.531+15A>G
NM_003849.4(SUCLG1):c.532-11A>G
NM_003849.4(SUCLG1):c.532-12_532-10del rs760236068
NM_003849.4(SUCLG1):c.532-15T>G
NM_003849.4(SUCLG1):c.532-4T>A
NM_003849.4(SUCLG1):c.589+12_589+15del
NM_003849.4(SUCLG1):c.589+14T>C
NM_003849.4(SUCLG1):c.589+17del
NM_003849.4(SUCLG1):c.590-11C>T
NM_003849.4(SUCLG1):c.590-16A>C
NM_003849.4(SUCLG1):c.590-18G>T
NM_003849.4(SUCLG1):c.633C>T (p.His211=)
NM_003849.4(SUCLG1):c.63C>G (p.Leu21=)
NM_003849.4(SUCLG1):c.666G>A (p.Leu222=)
NM_003849.4(SUCLG1):c.669C>T (p.Cys223=)
NM_003849.4(SUCLG1):c.673+19A>C
NM_003849.4(SUCLG1):c.673+19A>G
NM_003849.4(SUCLG1):c.674-18A>G rs1672616437
NM_003849.4(SUCLG1):c.681A>C (p.Gly227=)
NM_003849.4(SUCLG1):c.720C>T (p.Leu240=)
NM_003849.4(SUCLG1):c.760T>C (p.Leu254=)
NM_003849.4(SUCLG1):c.801A>G (p.Ala267=)
NM_003849.4(SUCLG1):c.826-13_826-10del rs1064793276
NM_003849.4(SUCLG1):c.826-15T>C
NM_003849.4(SUCLG1):c.837C>G (p.Ser279=)
NM_003849.4(SUCLG1):c.861T>G (p.Ala287=)
NM_003849.4(SUCLG1):c.90C>T (p.Ser30=)
NM_003849.4(SUCLG1):c.915T>C (p.Ala305=) rs1672521714
NM_003849.4(SUCLG1):c.936A>G (p.Lys312=) rs2104236652
NM_003849.4(SUCLG1):c.969T>C (p.Val323=) rs2104236589
NM_003849.4(SUCLG1):c.97+12C>A
NM_003849.4(SUCLG1):c.98-17_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-24_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-25_98-11del
NM_003849.4(SUCLG1):c.990A>G (p.Ala330=) rs1672519735
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.1108-4A>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.1228+15T>C
NM_003850.3(SUCLA2):c.1228+8T>C
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.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.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.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.165A>G (p.Leu55=)
NM_003850.3(SUCLA2):c.18C>T (p.Phe6=)
NM_003850.3(SUCLA2):c.190T>C (p.Leu64=)
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.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.315T>C (p.Gly105=)
NM_003850.3(SUCLA2):c.321A>G (p.Gly107=) rs1397436892
NM_003850.3(SUCLA2):c.345C>T (p.Leu115=)
NM_003850.3(SUCLA2):c.372-7_372-6del
NM_003850.3(SUCLA2):c.39G>A (p.Val13=) rs894388833
NM_003850.3(SUCLA2):c.418T>C (p.Leu140=)
NM_003850.3(SUCLA2):c.466T>C (p.Leu156=)
NM_003850.3(SUCLA2):c.534+7A>G rs1950123508
NM_003850.3(SUCLA2):c.552A>T (p.Gly184=) rs576129571
NM_003850.3(SUCLA2):c.570C>G (p.Val190=)
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.664-7A>T
NM_003850.3(SUCLA2):c.675G>A (p.Lys225=)
NM_003850.3(SUCLA2):c.699G>T (p.Val233=)
NM_003850.3(SUCLA2):c.69G>A (p.Thr23=)
NM_003850.3(SUCLA2):c.768A>G (p.Glu256=)
NM_003850.3(SUCLA2):c.802+10C>T
NM_003850.3(SUCLA2):c.802+18G>A
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.852C>T (p.Arg284=)
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+7C>A
NM_003850.3(SUCLA2):c.900G>A (p.Arg300=)
NM_003850.3(SUCLA2):c.91-13C>G
NM_003850.3(SUCLA2):c.937G>A (p.Gly313Ser) rs576801606
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.965-20_965-16del
NM_003850.3(SUCLA2):c.965-6A>G
NM_003850.3(SUCLA2):c.965-8C>T rs1225032007
NM_015713.5(RRM2B):c.*3489A>G rs540839717
NM_015713.5(RRM2B):c.534T>C (p.Asp178=) rs1810881397

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.