ClinVar Miner

List of variants reported 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: 219
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1250+188A>G rs3176174 0.57671
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002693.3(POLG):c.3483-164A>C rs3176231 0.01667
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.*100G>A rs770839560 0.00012
NM_002693.3(POLG):c.3294T>C (p.Asn1098=) rs374224714 0.00011
NM_002693.3(POLG):c.*122G>A rs886051517 0.00009
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) rs2307445 0.00006
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr) rs779956099 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.162G>A (p.Gln54=) rs796052878 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NC_012920.1(MT-ATP6):m.8803A>T rs878853020
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.8932C>T rs878853013
NC_012920.1(MT-ATP6):m.8936T>A rs1603221920
NC_012920.1(MT-ATP6):m.8969G>A rs794726857
NC_012920.1(MT-ATP6):m.8993T>C rs199476133
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9026G>A rs1603221987
NC_012920.1(MT-ATP6):m.9032T>C rs1603221994
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ATP6):m.9038T>C rs1603222003
NC_012920.1(MT-ATP6):m.9055G>A rs193303045
NC_012920.1(MT-ATP6):m.9091A>G rs1057520079
NC_012920.1(MT-ATP6):m.9152T>C rs878853096
NC_012920.1(MT-ATP6):m.9155A>G
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9176T>G rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-ATP6):m.9191T>C rs1556423632
NC_012920.1(MT-ATP8):m.8528T>C rs387906422
NC_012920.1(MT-ATP8):m.8557G>A rs386829040
NC_012920.1(MT-CO1):m.5920G>A rs199476129
NC_012920.1(MT-CO1):m.6721T>C rs199476127
NC_012920.1(MT-CO1):m.6930G>A rs28679680
NC_012920.1(MT-CO1):m.6951G>A rs1603220711
NC_012920.1(MT-CO1):m.7028C>T rs2015062
NC_012920.1(MT-CO1):m.7092T>C rs2124593818
NC_012920.1(MT-CO1):m.7444G>A rs199474822
NC_012920.1(MT-CO2):m.7587T>C rs199474825
NC_012920.1(MT-CO2):m.7637G>A rs1556423314
NC_012920.1(MT-CO2):m.7724A>T rs1553139599
NC_012920.1(MT-CO2):m.7746A>G rs1603221113
NC_012920.1(MT-CO2):m.7896G>A rs199474829
NC_012920.1(MT-CO3):m.9205_9206del rs199476137
NC_012920.1(MT-CO3):m.9487_9501del rs267606612
NC_012920.1(MT-CYB):m.14846G>A rs207459998
NC_012920.1(MT-CYB):m.14849T>C rs207460004
NC_012920.1(MT-CYB):m.15117T>C rs1603225092
NC_012920.1(MT-CYB):m.15150G>A rs207460000
NC_012920.1(MT-CYB):m.15197T>C rs207460001
NC_012920.1(MT-CYB):m.15242G>A rs207459999
NC_012920.1(MT-CYB):m.15326A>G rs2853508
NC_012920.1(MT-CYB):m.15467A>G rs1569484723
NC_012920.1(MT-CYB):m.15579A>G rs207460002
NC_012920.1(MT-CYB):m.15848A>G rs1057520206
NC_012920.1(MT-CYB):m.583G>A rs118203885
NC_012920.1(MT-CYB):m.590A>G rs2068676854
NC_012920.1(MT-CYB):m.616T>C rs387906420
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NC_012920.1(MT-ND1):m.1555A>G rs267606617
NC_012920.1(MT-ND1):m.1606G>A rs199476143
NC_012920.1(MT-ND1):m.1619C>T rs1569483811
NC_012920.1(MT-ND1):m.1630A>G rs1603218588
NC_012920.1(MT-ND1):m.1644G>A rs587776441
NC_012920.1(MT-ND1):m.1661A>G rs1057516055
NC_012920.1(MT-ND1):m.3357G>C rs1556422714
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.3502T>C rs1603218987
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-ND1):m.4160T>C rs199476119
NC_012920.1(MT-ND2):m.4735C>G rs1603219589
NC_012920.1(MT-ND2):m.4810G>A rs267606888
NC_012920.1(MT-ND2):m.5001dup rs1603219713
NC_012920.1(MT-ND2):m.5133_5134del rs199476116
NC_012920.1(MT-ND2):m.5293G>A rs28690990
NC_012920.1(MT-ND3):m.10134C>A rs587780529
NC_012920.1(MT-ND3):m.10158T>C rs199476117
NC_012920.1(MT-ND3):m.10172G>A rs879100790
NC_012920.1(MT-ND3):m.10191T>C rs267606890
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-ND4):m.11777C>A rs28384199
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.12544A>G rs1603223798
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu) rs267606893
NC_012920.1(MT-ND5):m.12811T>C rs199974018
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-ND5):m.13045A>C rs267606895
NC_012920.1(MT-ND5):m.13051G>A rs1131692063
NC_012920.1(MT-ND5):m.13084A>T rs267606896
NC_012920.1(MT-ND5):m.13094T>C rs1603224029
NC_012920.1(MT-ND5):m.13379A>C rs2124597679
NC_012920.1(MT-ND5):m.13379A>G rs2124597679
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND5):m.13514A>G rs587776440
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1(MT-ND5):m.13730G>A rs387906425
NC_012920.1(MT-ND6):m.14453G>A rs199476107
NC_012920.1(MT-ND6):m.14459G>A rs199476105
NC_012920.1(MT-ND6):m.14482C>A rs199476108
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-ND6):m.14487T>C rs199476109
NC_012920.1(MT-ND6):m.14513_14514del rs1603224770
NC_012920.1(MT-ND6):m.14596A>T rs387906424
NC_012920.1(MT-ND6):m.14597A>G rs797045055
NC_012920.1(MT-ND6):m.14598T>C rs1057518882
NC_012920.1(MT-ND6):m.14633A>G rs1569484667
NC_012920.1(MT-TA):m.5610G>A rs786200951
NC_012920.1(MT-TA):m.5631G>A rs786200950
NC_012920.1(MT-TA):m.5650G>A rs121434457
NC_012920.1(MT-TC):m.5814T>C rs200077222
NC_012920.1(MT-TC):m.5816A>G rs387906732
NC_012920.1(MT-TE):m.14674T>C rs387906421
NC_012920.1(MT-TE):m.14674T>G rs387906421
NC_012920.1(MT-TE):m.14709T>C rs121434453
NC_012920.1(MT-TE):m.14710G>A rs1603224840
NC_012920.1(MT-TF):m.622G>A rs118203887
NC_012920.1(MT-TG):m.10034T>C rs41347846
NC_012920.1(MT-TG):m.9997T>A rs121434475
NC_012920.1(MT-TG):m.9997T>C rs121434475
NC_012920.1(MT-TH):m.12147G>A rs121434474
NC_012920.1(MT-TH):m.12183G>A rs121434473
NC_012920.1(MT-TH):m.12201T>C rs387906733
NC_012920.1(MT-TI):m.4284G>A rs121434468
NC_012920.1(MT-TI):m.4298G>A rs1603219395
NC_012920.1(MT-TI):m.4308G>A rs1603219396
NC_012920.1(MT-TK):m.8306T>C
NC_012920.1(MT-TK):m.8313G>A rs118192101
NC_012920.1(MT-TK):m.8340G>A
NC_012920.1(MT-TK):m.8344A>G rs118192098
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.3249G>A rs199474667
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.3271T>C rs199474658
NC_012920.1(MT-TL1):m.3273del
NC_012920.1(MT-TL1):m.3274A>G rs199474666
NC_012920.1(MT-TL1):m.3280A>G
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.12271T>C rs1131692061
NC_012920.1(MT-TL2):m.12276G>A rs1603223645
NC_012920.1(MT-TL2):m.12294G>A
NC_012920.1(MT-TL2):m.12308A>G rs2853498
NC_012920.1(MT-TL2):m.12315G>A rs121434462
NC_012920.1(MT-TL2):m.12316G>A
NC_012920.1(MT-TL2):m.12320A>G rs121434463
NC_012920.1(MT-TM):m.4450G>A
NC_012920.1(MT-TN):m.5690A>G
NC_012920.1(MT-TN):m.5702A>G rs1603220093
NC_012920.1(MT-TN):m.5703G>A rs199476130
NC_012920.1(MT-TN):m.5728T>C rs199476132
NC_012920.1(MT-TP):m.15958A>T rs2068750239
NC_012920.1(MT-TP):m.15990C>T rs199474699
NC_012920.1(MT-TQ):m.4332G>A rs199476141
NC_012920.1(MT-TQ):m.4336T>C rs41456348
NC_012920.1(MT-TQ):m.4372C>T rs1603219429
NC_012920.1(MT-TR):m.10455A>G rs1603222840
NC_012920.1(MT-TS1):m.7445A>G rs199474818
NC_012920.1(MT-TS1):m.7471del rs111033319
NC_012920.1(MT-TS1):m.7471dup rs111033319
NC_012920.1(MT-TS1):m.7476C>T rs201950015
NC_012920.1(MT-TS1):m.7497G>A rs387906419
NC_012920.1(MT-TS1):m.7502C>T rs876657868
NC_012920.1(MT-TS1):m.7511T>C rs199474821
NC_012920.1(MT-TS2):m.12217A>G rs1556424082
NC_012920.1(MT-TS2):m.12239C>T rs376062400
NC_012920.1(MT-TS2):m.12241del rs1603223633
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
NC_012920.1(MT-TW):m.5538G>A rs1603220012
NC_012920.1(MT-TW):m.5545C>T rs387906418
NC_012920.1(MT-TW):m.5558A>G rs370471013
NC_012920.1:m.4769A>G rs3021086
NM_002693.3(POLG):c.*420A>G rs2055257867
NM_002693.3(POLG):c.3293A>C (p.Asn1098Thr) rs587780421
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002693.3(POLG):c.3483-14T>C rs587781119
NM_002693.3(POLG):c.3483-41A>C rs2307436
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter) rs1567184117
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
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
NM_002693.3(POLG):c.3643+2T>C rs1335880349
m.10010T>C rs121434476
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.3376G>A rs397515612
m.3635G>A rs397515507
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4171C>A rs28616230
m.4300A>G rs121434470
m.5244G>A rs199476115
m.6742T>C rs199476126
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.