ClinVar Miner

List of variants in gene MT-TL1 studied for MELAS syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.3236A>G rs1603218849
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3248G>A rs879110136
NC_012920.1(MT-CYB):m.3252A>T rs199474661
NC_012920.1(MT-CYB):m.3254C>A rs1603218855
NC_012920.1(MT-CYB):m.3254C>T rs1603218855
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3261A>G rs1603218859
NC_012920.1(MT-CYB):m.3263C>T rs1603218860
NC_012920.1(MT-CYB):m.3269A>G rs1603218862
NC_012920.1(MT-CYB):m.3272T>C rs1603218865
NC_012920.1(MT-CYB):m.3275C>A rs1057516057
NC_012920.1(MT-CYB):m.3275C>G rs1057516057
NC_012920.1(MT-CYB):m.3277G>A rs386828902
NC_012920.1(MT-CYB):m.3278T>C rs1603218868
NC_012920.1(MT-CYB):m.3288A>G rs1603218872
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3275C>T rs1057516057
NC_012920.1:m.3291T>C rs869312463
m.3242G>A rs193303018
m.3250T>C rs199474664
m.3251A>G rs199474662
m.3252A>G rs199474661
m.3256C>T rs199474659
m.3260A>G rs199474663
m.3271T>C rs199474658
m.3274A>G rs199474666
m.3290T>C rs199474665
m.3303C>T rs199474660

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