ClinVar Miner

List of variants in gene MT-TS1 studied for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.7460A>G rs1603220969
NC_012920.1(MT-CYB):m.7469C>T rs1603220974
NC_012920.1(MT-CYB):m.7471C>A rs397515726
NC_012920.1(MT-CYB):m.7478G>A rs1603220977
NC_012920.1(MT-CYB):m.7479G>A rs1603220980
NC_012920.1(MT-CYB):m.7487C>T rs1603220981
NC_012920.1(MT-CYB):m.7490A>G rs1603220984
NC_012920.1(MT-CYB):m.7499C>A rs1603220989
NC_012920.1(MT-CYB):m.7501T>C rs1556423303
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.7472A>T rs1556423293
NC_012920.1:m.7496T>C rs1057516061
NC_012920.1:m.7502C>T rs876657868
m.7468C>T rs111033173
m.7471C>T rs397515726
m.7471delC rs111033319
m.7476C>T rs201950015
m.7493C>T rs397515728
m.7497G>A rs387906419
m.7498G>A rs111033324
m.7511T>C rs199474821
m.7512T>C rs199474817

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