ClinVar Miner

List of variants in gene NDUFAF3 studied for Mitochondrial complex I deficiency, nuclear type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_199069.1(NDUFAF3):c.-241C>T rs573066357 0.00274
NM_199069.1(NDUFAF3):c.-126G>C rs75749590 0.00207
NM_199069.1(NDUFAF3):c.-127G>C rs74601553 0.00207
NM_199069.2(NDUFAF3):c.*98A>G rs117051791 0.00050
NM_199069.1(NDUFAF3):c.-363C>G rs760652685 0.00043
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) rs202104160 0.00037
NM_199069.2(NDUFAF3):c.271-10C>G rs200789117 0.00029
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179 0.00024
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) rs200576852 0.00020
NM_199069.2(NDUFAF3):c.*169G>C rs886058669 0.00017
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) rs199504381 0.00012
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107 0.00010
NM_199069.1(NDUFAF3):c.-249C>T rs886058665 0.00009
NM_199069.2(NDUFAF3):c.*243G>A rs941353519 0.00004
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937 0.00002
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) rs759189660 0.00001
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671 0.00001
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668 0.00001
NM_199069.1(NDUFAF3):c.-143A>T rs2093162490
NM_199069.1(NDUFAF3):c.-369C>T rs886058664
NM_199069.1(NDUFAF3):c.-370A>G rs886058663
NM_199069.1(NDUFAF3):c.-489T>C rs886058662
NM_199069.1(NDUFAF3):c.-503G>A rs774579592
NM_199069.1(NDUFAF3):c.-503G>C rs774579592
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) rs1378867079
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371

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.