ClinVar Miner

List of variants in gene MT-ND5 reported as pathogenic for MELAS syndrome

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ND5):m.12425del rs1603223730
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.13094T>C rs1603224029
NC_012920.1(MT-ND5):m.13513G>A rs267606897

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