ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial disease

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101 0.00002
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-CO3):m.9205_9206del rs199476137
NC_012920.1(MT-CO3):m.9487_9501del rs267606612
NC_012920.1(MT-CYB):m.12276G>A rs1603223645
NC_012920.1(MT-CYB):m.15242G>A rs207459999
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.4327T>C rs1603219411
NC_012920.1(MT-CYB):m.5672T>C rs1603220085
NC_012920.1(MT-CYB):m.616T>C rs387906420
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NC_012920.1(MT-ND1):m.3890G>A rs587776434
NC_012920.1(MT-ND1):m.3902_3908inv
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 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-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-TK):m.8313G>A rs118192101
NC_012920.1(MT-TK):m.8340G>A
NC_012920.1(MT-TK):m.8363G>A rs118192100
NC_012920.1(MT-TL1):m.3243A>T rs199474657
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.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
NC_012920.1:m.8969G>A rs794726857
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) rs1598368033
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
NM_005006.7(NDUFS1):c.699dup (p.Lys234Ter) rs863224101
NM_012062.5(DNM1L):c.1088G>A (p.Gly363Asp) rs2137520923
NM_012062.5(DNM1L):c.1201G>A (p.Gly401Ser) rs1316999302
NM_012062.5(DNM1L):c.2128A>G (p.Arg710Gly) rs2137612346
NM_012062.5(DNM1L):c.687_689dup (p.Leu230dup) rs2137424964
NM_017446.4(MRPL39):c.896G>T (p.Gly299Val) rs1227035820
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet) rs1572079834
NM_020247.5(COQ8A):c.730+608_854-25del
NM_021830.5(TWNK):c.1198C>T (p.Arg400Cys)
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
m.10663T>C rs1556423844
m.12201T>C rs387906733
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.3697G>A rs199476122
m.4300A>G rs121434470
m.7510T>C rs199474820
m.8356T>C rs118192099

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