ClinVar Miner

List of variants reported as pathogenic for MELAS syndrome by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.583G>A rs118203885
NC_012920.1(MT-ND1):m.3697G>A rs199476122
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND1):m.3949T>C rs199476124
NC_012920.1(MT-ND4):m.11084A>G rs199476113
NC_012920.1(MT-ND5):m.12770A>G rs267606894
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-ND5):m.13045A>C rs267606895
NC_012920.1(MT-ND5):m.13084A>T rs267606896
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND6):m.14453G>A rs199476107
NC_012920.1(MT-TC):m.5814T>C rs200077222
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TL1):m.3271T>C rs199474658
NC_012920.1(MT-TQ):m.4332G>A rs199476141

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