ClinVar Miner

List of variants reported as likely pathogenic for Ethylmalonic encephalopathy

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Total variants: 10
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NM_014297.5(ETHE1):c.226+1G>T rs1555765524
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly) rs756235299
NM_014297.5(ETHE1):c.505+1G>A rs935855792
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125
NM_014297.5(ETHE1):c.592dup (p.His198fs) rs1555762070
NM_014297.5(ETHE1):c.595+2T>G rs761661864
NM_014297.5(ETHE1):c.596-2A>G rs863223954

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