ClinVar Miner

List of variants reported as pathogenic for MELAS syndrome by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NC_012920.1(MT-CYB):m.12276G>A
NC_012920.1(MT-CYB):m.14710G>A
NC_012920.1(MT-CYB):m.14739G>A
NC_012920.1(MT-CYB):m.15915G>A
NC_012920.1(MT-CYB):m.1644G>A
NC_012920.1(MT-CYB):m.3243A>T
NC_012920.1(MT-CYB):m.3255G>A
NC_012920.1(MT-CYB):m.3302A>G
NC_012920.1(MT-CYB):m.4298G>A
NC_012920.1(MT-CYB):m.5536_5537insT
NC_012920.1(MT-CYB):m.5538G>A
NC_012920.1(MT-CYB):m.5540G>A
NC_012920.1(MT-CYB):m.5543T>C
NC_012920.1(MT-CYB):m.8362T>G
NC_012920.1:m.13094T>C
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3380G>A
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.8969G>A rs794726857
m.12147G>A rs121434474
m.12315G>A rs121434462
m.15967G>A rs199474701
m.1606G>A rs199476143
m.3251A>G rs199474662
m.3256C>T rs199474659
m.3260A>G rs199474663
m.3271T>C rs199474658
m.3274A>G rs199474666
m.3303C>T rs199474660
m.3697G>A rs199476122
m.5521G>A rs199474673
m.5591G>A rs121434458
m.5728T>C rs199476132
m.583G>A rs118203885
m.586G>A rs387906734
m.616T>C rs387906420
m.7471_7472insC rs111033319
m.7497G>A rs387906419
m.7511T>C rs199474821
m.7512T>C rs199474817
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8363G>A rs118192100

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