ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 9 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.*163T>C rs2832 0.79934
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_003849.4(SUCLG1):c.*207A>G rs73942653 0.00784
NM_003849.3(SUCLG1):c.-107A>G rs140936198 0.00764
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_003849.3(SUCLG1):c.-186G>A rs143151382 0.00122
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) rs139731592 0.00045
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_003849.4(SUCLG1):c.341C>T (p.Thr114Met) rs201224138 0.00025
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=) rs371938859 0.00021
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) rs149809280 0.00019
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_003849.4(SUCLG1):c.*38C>T rs369617521 0.00014
NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) rs141331864 0.00013
NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) rs146834097 0.00010
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_003849.4(SUCLG1):c.319-8T>C rs370790297 0.00007
NM_003849.4(SUCLG1):c.*218A>G rs570310549 0.00006
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 0.00002
NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr) rs748995693 0.00001
NM_003849.4(SUCLG1):c.201+8T>A rs764185628 0.00001
NM_003849.4(SUCLG1):c.202-3C>T rs769207281 0.00001
NM_003849.3(SUCLG1):c.-150T>A rs886056354
NM_003849.3(SUCLG1):c.-39C>A rs144946502
NM_003849.3(SUCLG1):c.-39C>G rs144946502
NM_003849.3(SUCLG1):c.-71G>T rs886056353
NM_003849.4(SUCLG1):c.*126G>A rs1672489386
NM_003849.4(SUCLG1):c.*13del rs527774382
NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs) rs1308442327
NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) rs564792232
NM_003849.4(SUCLG1):c.41T>C (p.Met14Thr) rs1369567672
NM_003849.4(SUCLG1):c.98-10_98-8del rs886056350
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-15_98-14insAACC rs886056352

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.