ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP
NC_012920.1(MT-CYB):m.10406G>A rs1603222826
NC_012920.1(MT-CYB):m.10408T>C rs1603222827
NC_012920.1(MT-CYB):m.10460T>C rs1603222848
NC_012920.1(MT-CYB):m.12148T>C rs1603223571
NC_012920.1(MT-CYB):m.12258C>T rs118203888
NC_012920.1(MT-CYB):m.12264C>T rs1603223642
NC_012920.1(MT-CYB):m.12335T>C rs1603223668
NC_012920.1(MT-CYB):m.16002T>C rs1603225633
NC_012920.1(MT-CYB):m.1630A>G rs1603218588
NC_012920.1(MT-CYB):m.1659T>C rs1603218609
NC_012920.1(MT-CYB):m.3288A>G rs1603218872
NC_012920.1(MT-CYB):m.4296G>A rs1603219393
NC_012920.1(MT-CYB):m.4308G>A rs1603219396
NC_012920.1(MT-CYB):m.4372C>T rs1603219429
NC_012920.1(MT-CYB):m.4437C>T rs1603219459
NC_012920.1(MT-CYB):m.578T>C rs1603218446
NC_012920.1(MT-CYB):m.618T>C rs1603218460
NC_012920.1(MT-CYB):m.7566G>A rs1603221016
NC_012920.1(MT-CYB):m.8299G>A rs1603221391
NC_012920.1(MT-CYB):m.8319A>G rs1603221401
NC_012920.1(MT-CYB):m.9997T>A rs121434475
NC_012920.1:m.13046T>C rs1603224015
NC_012920.1:m.14465G>A rs1603224738
NC_012920.1:m.4142G>A rs1603219317
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly) rs786205666
m.14674T>C rs387906421
m.14709T>C rs121434453
m.1624C>T rs199476144
m.3242G>A rs193303018
m.3252A>G rs199474661
m.4284G>A rs121434468

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