List of variants reported as pathogenic for MERRF syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.611G>A	rs118203886
NC_012920.1(MT-ND5):m.13042G>A	rs267606898
NC_012920.1(MT-TI):m.4284G>A	rs121434468
NC_012920.1(MT-TI):m.4296G>A	rs1603219393
NC_012920.1(MT-TI):m.4300A>G	rs121434470
NC_012920.1(MT-TK):m.8344A>G	rs118192098
NC_012920.1(MT-TK):m.8356T>C	rs118192099
NC_012920.1(MT-TK):m.8361G>A	rs118192104
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TL1):m.3256C>T	rs199474659
NC_012920.1(MT-TL1):m.3271T>C	rs199474658
NC_012920.1(MT-TP):m.16002T>C	rs1603225633
NC_012920.1(MT-TR):m.10407G>A

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