ClinVar Miner

List of variants in gene NDUFAF5 studied for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_024120.5(NDUFAF5):c.486T>C (p.His162=) rs2273317 0.01050
NM_024120.5(NDUFAF5):c.531T>C (p.Ile177=) rs148689921 0.00083
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_024120.5(NDUFAF5):c.479+5G>A rs367847398 0.00007
NM_024120.5(NDUFAF5):c.480-3T>G rs749288299 0.00006
NM_024120.5(NDUFAF5):c.519+4A>G rs373951216 0.00006
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His) rs199543540 0.00006
NM_024120.5(NDUFAF5):c.529A>G (p.Ile177Val) rs543144225 0.00004
NM_024120.5(NDUFAF5):c.668A>G (p.Asn223Ser) rs371560528 0.00004
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met) rs141758325 0.00003
NM_024120.5(NDUFAF5):c.970G>A (p.Ala324Thr) rs142611230 0.00003
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val) rs200756131 0.00002
NM_024120.5(NDUFAF5):c.603A>G (p.Leu201=) rs1428331700 0.00002
NM_024120.5(NDUFAF5):c.760T>C (p.Leu254=) rs1209161635 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_024120.5(NDUFAF5):c.1024A>G (p.Lys342Glu) rs769458895 0.00001
NM_024120.5(NDUFAF5):c.251A>G (p.Tyr84Cys) rs755888652 0.00001
NM_024120.5(NDUFAF5):c.524A>G (p.His175Arg) rs145095925 0.00001
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter) rs368690277 0.00001
NM_024120.5(NDUFAF5):c.678A>C (p.Gly226=) rs143253877 0.00001
NM_024120.5(NDUFAF5):c.222+8_222+15del rs3831170
NM_024120.5(NDUFAF5):c.223-6C>T rs1455353958
NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp) rs761333847
NM_024120.5(NDUFAF5):c.233G>A (p.Arg78Gln) rs181973913
NM_024120.5(NDUFAF5):c.235A>T (p.Ile79Phe) rs1422440211
NM_024120.5(NDUFAF5):c.263+7G>A rs1981364070
NM_024120.5(NDUFAF5):c.425A>C (p.Glu142Ala)
NM_024120.5(NDUFAF5):c.519+2T>C
NM_024120.5(NDUFAF5):c.519+2T>G rs2147534220
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
NM_024120.5(NDUFAF5):c.736G>T (p.Val246Phe) rs1985448121

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.