List of variants reported as uncertain significance for Ethylmalonic encephalopathy by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.197A>G (p.Lys66Arg)	rs777252863	0.00003
NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu)	rs770508697	0.00002
NM_014297.5(ETHE1):c.427G>A (p.Val143Ile)	rs201846162	0.00002
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)	rs1366031091

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