ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial disease by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NC_012920.1(MT-ATP6):m.8969G>A rs794726857
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ATP6):m.9155A>G
NC_012920.1(MT-ATP6):m.9176T>G rs199476135
NC_012920.1(MT-ATP6):m.9191T>C rs1556423632
NC_012920.1(MT-ATP8):m.8528T>C rs387906422
NC_012920.1(MT-CO1):m.5920G>A rs199476129
NC_012920.1(MT-CO1):m.6930G>A rs28679680
NC_012920.1(MT-CO2):m.7587T>C rs199474825
NC_012920.1(MT-CO3):m.9205_9206del rs199476137
NC_012920.1(MT-CO3):m.9487_9501del rs267606612
NC_012920.1(MT-CYB):m.15150G>A rs207460000
NC_012920.1(MT-CYB):m.15242G>A rs207459999
NC_012920.1(MT-CYB):m.616T>C rs387906420
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NC_012920.1(MT-ND1):m.1644G>A rs587776441
NC_012920.1(MT-ND1):m.3697G>A rs199476122
NC_012920.1(MT-ND1):m.3890G>A rs587776434
NC_012920.1(MT-ND1):m.3902_3908inv
NC_012920.1(MT-ND2):m.4810G>A rs267606888
NC_012920.1(MT-ND4):m.11777C>A rs28384199
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu) rs267606893
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-ND5):m.13514A>G rs587776440
NC_012920.1(MT-ND6):m.14453G>A rs199476107
NC_012920.1(MT-ND6):m.14482C>A rs199476108
NC_012920.1(MT-ND6):m.14513_14514del rs1603224770
NC_012920.1(MT-ND6):m.14597A>G rs797045055
NC_012920.1(MT-TA):m.5650G>A rs121434457
NC_012920.1(MT-TE):m.14674T>C rs387906421
NC_012920.1(MT-TE):m.14709T>C rs121434453
NC_012920.1(MT-TH):m.12147G>A rs121434474
NC_012920.1(MT-TH):m.12201T>C rs387906733
NC_012920.1(MT-TK):m.8313G>A rs118192101
NC_012920.1(MT-TK):m.8340G>A
NC_012920.1(MT-TK):m.8356T>C rs118192099
NC_012920.1(MT-TK):m.8363G>A rs118192100
NC_012920.1(MT-TL1):m.3243A>T rs199474657
NC_012920.1(MT-TL1):m.3251A>G rs199474662
NC_012920.1(MT-TL1):m.3255G>A rs1603218856
NC_012920.1(MT-TL1):m.3256C>T rs199474659
NC_012920.1(MT-TL1):m.3258T>C
NC_012920.1(MT-TL1):m.3260A>G rs199474663
NC_012920.1(MT-TL1):m.3291T>C rs869312463
NC_012920.1(MT-TL1):m.3302A>G rs1603218878
NC_012920.1(MT-TL1):m.3303C>T rs199474660
NC_012920.1(MT-TL2):m.12276G>A rs1603223645
NC_012920.1(MT-TL2):m.12315G>A rs121434462
NC_012920.1(MT-TM):m.4450G>A
NC_012920.1(MT-TN):m.5690A>G
NC_012920.1(MT-TN):m.5728T>C rs199476132
NC_012920.1(MT-TP):m.15990C>T rs199474699
NC_012920.1(MT-TS1):m.7497G>A rs387906419
NC_012920.1(MT-TS1):m.7511T>C rs199474821
NC_012920.1(MT-TT):m.15923A>G rs1556424691
NC_012920.1(MT-TW):m.5521G>A rs199474673
NC_012920.1(MT-TW):m.5536_5537insT rs1603220010
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter) rs1567184117
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3630dup (p.Gly1211fs) rs113994101
m.10663T>C rs1556423844
m.12258C>A rs118203888
m.14482C>G rs199476108
m.14495A>G rs199476106
m.14568C>T rs397515506
m.14787_14790delTTAA rs207460005
m.3635G>A rs397515507
m.4300A>G rs121434470
m.7510T>C rs199474820

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.