ClinVar Miner

List of variants reported as pathogenic for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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Total variants: 56
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NC_012920.1(MT-CYB):m.12276G>A rs1603223645
NC_012920.1(MT-CYB):m.14710G>A rs1603224840
NC_012920.1(MT-CYB):m.14739G>A rs1603224850
NC_012920.1(MT-CYB):m.15915G>A rs1603225588
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1(MT-CYB):m.4298G>A rs1603219395
NC_012920.1(MT-CYB):m.5536_5537insT rs1603220010
NC_012920.1(MT-CYB):m.5538G>A rs1603220012
NC_012920.1(MT-CYB):m.5540G>A rs1603220014
NC_012920.1(MT-CYB):m.5543T>C rs1603220016
NC_012920.1(MT-CYB):m.8362T>G rs1603221423
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3380G>A rs1603218926
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.8969G>A rs794726857
m.11084A>G rs199476113
m.12147G>A rs121434474
m.12315G>A rs121434462
m.12770A>G rs267606894
m.13042G>A rs267606898
m.13045A>C rs267606895
m.13084A>T rs267606896
m.13513G>A rs267606897
m.14453G>A rs199476107
m.15967G>A rs199474701
m.1606G>A rs199476143
m.3251A>G rs199474662
m.3256C>T rs199474659
m.3260A>G rs199474663
m.3271T>C rs199474658
m.3274A>G rs199474666
m.3303C>T rs199474660
m.3697G>A rs199476122
m.3946G>A rs199476123
m.3949T>C rs199476124
m.4332G>A rs199476141
m.5521G>A rs199474673
m.5591G>A rs121434458
m.5728T>C rs199476132
m.5814T>C rs200077222
m.583G>A rs118203885
m.586G>A rs387906734
m.616T>C rs387906420
m.7471_7472insC rs111033319
m.7497G>A rs387906419
m.7511T>C rs199474821
m.7512T>C rs199474817
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8363G>A rs118192100

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