ClinVar Miner

List of variants reported as likely pathogenic for Ethylmalonic encephalopathy by Genetic Services Laboratory, University of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly)	rs756235299	0.00001
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)	rs1555762722

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