ClinVar Miner

List of variants studied for Mitochondrial encephalomyopathy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_031210.6(SLIRP):c.98-178A>G rs1402362539 0.00001
NC_012920.1(MT-CYB):m.15242G>A rs207459999
NC_012920.1(MT-TL1):m.3252A>G rs199474661
NC_012920.1(MT-TL2):m.12315G>A rs121434462
NM_031210.6(SLIRP):c.248_252del (p.Ile83fs) rs776989213
m.10438A>G rs121434456
m.10450A>G rs387906731
m.5556G>A rs387906736

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