ClinVar Miner

List of variants in gene MT-TH studied for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.12141A>G rs1603223565
NC_012920.1(MT-CYB):m.12142A>G rs1603223566
NC_012920.1(MT-CYB):m.12143T>C rs1603223568
NC_012920.1(MT-CYB):m.12144A>G rs1603223569
NC_012920.1(MT-CYB):m.12148T>C rs1603223571
NC_012920.1(MT-CYB):m.12150T>C rs1603223574
NC_012920.1(MT-CYB):m.12151A>G rs1603223576
NC_012920.1(MT-CYB):m.12160A>G rs1603223579
NC_012920.1(MT-CYB):m.12161T>C rs386829147
NC_012920.1(MT-CYB):m.12163A>G rs1603223581
NC_012920.1(MT-CYB):m.12164G>A rs1603223582
NC_012920.1(MT-CYB):m.12166T>C rs879126000
NC_012920.1(MT-CYB):m.12171A>G rs1603223589
NC_012920.1(MT-CYB):m.12172A>G rs1556424073
NC_012920.1(MT-CYB):m.12173T>A rs1556424075
NC_012920.1(MT-CYB):m.12173T>C rs1556424075
NC_012920.1(MT-CYB):m.12176G>A rs1603223594
NC_012920.1(MT-CYB):m.12178C>T rs1603223596
NC_012920.1(MT-CYB):m.12181C>T rs1603223598
NC_012920.1(MT-CYB):m.12184A>G rs1603223603
NC_012920.1(MT-CYB):m.12185G>A rs1603223607
NC_012920.1(MT-CYB):m.12188T>C rs879128211
NC_012920.1(MT-CYB):m.12189T>C rs28505538
NC_012920.1(MT-CYB):m.12191C>T rs1603223610
NC_012920.1(MT-CYB):m.12193A>G rs1603223611
NC_012920.1(MT-CYB):m.12196C>T rs1556424080
NC_012920.1(MT-CYB):m.12202T>C rs1603223613
NC_012920.1(MT-CYB):m.12204A>C rs1603223614
NC_012920.1(MT-CYB):m.12205C>T rs1603223615
NC_012920.1(MT-TH):m.12146A>G rs2124597054
NC_012920.1(MT-TH):m.12153C>T rs376606918
NC_012920.1(MT-TH):m.12175T>C rs1057520099
m.12147G>A rs121434474
m.12192G>A rs3134560
m.12201T>C rs387906733

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