ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.15968T>C rs1603225617
NC_012920.1(MT-CYB):m.15970T>C rs375213730
NC_012920.1(MT-CYB):m.15976T>C rs1603225620
NC_012920.1(MT-CYB):m.15977C>T rs1556424716
NC_012920.1(MT-CYB):m.15978C>T rs201041059
NC_012920.1(MT-CYB):m.15983T>C rs1603225623
NC_012920.1(MT-CYB):m.15984T>C rs1603225624
NC_012920.1(MT-CYB):m.15992A>T rs1556424718
NC_012920.1(MT-CYB):m.15994A>G rs1603225627
NC_012920.1(MT-CYB):m.15995G>A rs1603225630
NC_012920.1(MT-CYB):m.16002T>C rs1603225633
NC_012920.1(MT-CYB):m.16003T>C rs1603225634
NC_012920.1(MT-CYB):m.16011A>G rs1603225635
NC_012920.1(MT-CYB):m.16013A>G rs1603225636
NC_012920.1(MT-CYB):m.16017T>C rs201864830
NC_012920.1(MT-CYB):m.16018_16032dup rs1603225639
NC_012920.1(MT-CYB):m.16021C>T rs1603225641
m.15965A>G rs199474700
m.15967G>A rs199474701

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