List of variants reported as likely pathogenic for Ethylmalonic encephalopathy by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)	rs763799125	0.00003
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly)	rs756235299	0.00001
NM_014297.5(ETHE1):c.595+2T>G	rs761661864	0.00001
NC_000019.10:g.(?_43506840)_(43511576_?)del
NC_000019.9:g.(?_44012086)_(44013026_?)del
NM_014297.5(ETHE1):c.226+1G>T	rs1555765524
NM_014297.5(ETHE1):c.227-2A>C
NM_014297.5(ETHE1):c.227-2A>G
NM_014297.5(ETHE1):c.406A>T (p.Thr136Ser)
NM_014297.5(ETHE1):c.506-2A>G	rs2145979349
NM_014297.5(ETHE1):c.586G>C (p.Asp196His)
NM_014297.5(ETHE1):c.595+2T>A
NM_014297.5(ETHE1):c.596-1G>A
NM_014297.5(ETHE1):c.596-2A>G	rs863223954
NM_014297.5(ETHE1):c.596-2A>T	rs863223954
NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe)	rs267605525
NM_014297.5(ETHE1):c.81+1G>T
NM_014297.5(ETHE1):c.82-2A>G

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