ClinVar Miner

List of variants in gene DLD studied for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000108.5(DLD):c.*1307C>T rs568807016 0.00052
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_000108.5(DLD):c.*1857A>C rs774099916 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_000108.5(DLD):c.*845G>A rs750426584 0.00024
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000108.5(DLD):c.*1092C>T rs546777301 0.00020
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745 0.00016
NM_000108.5(DLD):c.*739G>A rs181103944 0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_000108.5(DLD):c.-8G>T rs372155330 0.00013
NM_000108.5(DLD):c.*1877A>G rs182010485 0.00009
NM_000108.5(DLD):c.*1505C>T rs1053262850 0.00007
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) rs967089304 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_000108.5(DLD):c.*1401G>T rs1266926415 0.00001
NM_000108.5(DLD):c.*1724C>G rs886061913 0.00001
NM_000108.5(DLD):c.*225C>T rs553824101 0.00001
NM_000108.5(DLD):c.*394A>G rs1246423607 0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602 0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846 0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000108.5(DLD):c.*1027T>G rs372098056
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1231A>G rs2032385167
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*374G>T rs576270082
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415

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.