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

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Total variants: 64

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.12258C>T	rs118203888
NC_012920.1(MT-CYB):m.12264C>T	rs1603223642
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.1659T>C	rs1603218609
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(MT-ND1):m.3380G>A	rs1603218926
NC_012920.1(MT-ND5):m.12425del	rs1603223730
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.3481G>A	rs587776433
NC_012920.1:m.7445A>G	rs199474818
NC_012920.1:m.7471dup	rs111033319
NC_012920.1:m.8969G>A	rs794726857
m.11084A>G	rs199476113
m.12147G>A	rs121434474
m.12207G>A	rs118203889
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.1624C>T	rs199476144
m.3242G>A	rs193303018
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.5532G>A	rs199474674
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.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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