ClinVar Miner

List of variants reported as pathogenic by Laboratory for Study of Mitochondrial Disorders, Charles University, First Faculty of Medicine - General University Hospital in Prague

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.696del (p.Ala233fs)	rs2141051516
NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala)	rs1898386320

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