Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555703272
rs1555703272
SLC25A10
0.925 0.080 17 81715568 stop gained A/T snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2018 2018
dbSNP: rs398124308
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2012 2012
dbSNP: rs752513525
rs752513525
NDUFA13
0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2015 2015
dbSNP: rs104893898
rs104893898
NDUFS4
1.000 0.040 5 53646371 stop gained C/T snv 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs104893899
rs104893899
NDUFS4
1.000 0.040 5 53560706 stop gained G/A snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs1135402749
rs1135402749
NDUFV1
1.000 0.040 11 67611934 missense variant T/C snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.710 1.000 0 2018 2018
dbSNP: rs121908985
rs121908985
NDUFS4
1.000 0.040 5 53646345 frameshift variant G/- delins
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs1445075330
rs1445075330
NDUFS4
1.000 0.040 5 53683157 frameshift variant -/AAGTC delins 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs1485032272
rs1485032272
NDUFS1
1.000 0.040 2 206144919 missense variant T/A;C snv 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs199476116
rs199476116
COX1 ; ND2
1.000 0.040 MT 5132 frameshift variant AA/- delins
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs201727685
rs201727685
NDUFV1 ; C11orf72
1.000 0.040 11 67608562 missense variant T/A;C snv 1.6E-05; 5.2E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs267606888
rs267606888
COX1 ; ND2
1.000 0.040 MT 4810 stop gained G/A snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs28384199
rs28384199
ND4 ; ND5
0.882 0.160 MT 11777 missense variant C/A;G snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs771783839
rs771783839
NDUFS3
1.000 0.040 11 47582437 missense variant G/A;T snv 4.4E-05; 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs786205225
rs786205225
NDUFB11
0.851 0.200 X 47142690 stop gained G/A snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs373075574
rs373075574
FOXRED1
1.000 0.040 11 126273068 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs138867882
rs138867882
NDUFS3 ; KBTBD4
1.000 0.040 11 47580977 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs750971390
rs750971390
NDUFS1
1.000 0.040 2 206152508 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs376281345
rs376281345
NDUFS4
0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs150966634
rs150966634
NDUFV1
1.000 0.040 11 67611972 missense variant C/T snv 1.2E-04 1.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 2 2008 2013
dbSNP: rs757043077
rs757043077
NDUFAF5
0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2012 2012
dbSNP: rs587776949
rs587776949
NDUFS4
0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs137852863
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 2 2005 2016
dbSNP: rs121913659
rs121913659
NDUFV1
0.925 0.040 11 67612225 missense variant C/T snv 1.2E-05 3.5E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 2 1999 2015
dbSNP: rs199683937
rs199683937
NDUFV1
0.925 0.040 11 67611982 splice region variant A/C snv 6.0E-05 4.9E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0