ClinVar Miner

List of variants reported by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1250+188A>G rs3176174 0.57671
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_014297.5(ETHE1):c.6G>A (p.Ala2=) rs3810381 0.17604
NM_014297.5(ETHE1):c.712+181A>G rs12985024 0.14035
NM_014297.5(ETHE1):c.505+264T>G rs117069120 0.07395
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01995
NM_002693.3(POLG):c.3483-164A>C rs3176231 0.01667
NM_014297.5(ETHE1):c.712+88G>A rs150923593 0.01545
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_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
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_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_014297.5(ETHE1):c.*55G>T rs201842186 0.00160
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
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_014297.5(ETHE1):c.573C>T (p.Ile191=) rs139119694 0.00006
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 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_014297.5(ETHE1):c.197A>G (p.Lys66Arg) rs777252863 0.00003
NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu) rs770508697 0.00002
NM_014297.5(ETHE1):c.427G>A (p.Val143Ile) rs201846162 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_002693.3(POLG):c.162G>A (p.Gln54=) rs796052878 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_014297.5(ETHE1):c.505+1G>A rs935855792 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_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
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
NM_014297.5(ETHE1):c.378G>A (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.505+1G>T rs935855792
NM_014297.5(ETHE1):c.604dup (p.Val202fs) rs1555761934
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val) rs1366031091
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

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