ClinVar Miner

List of variants reported for Ethylmalonic encephalopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr) rs1470124674 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter) rs368778231 0.00001
NM_014297.5(ETHE1):c.505+1G>A rs935855792 0.00001
NC_000019.9:g.(?_44010870)_(44013017_44015588)del
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs) rs761827730
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter) rs863223955
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala) rs1284200516
NM_014297.5(ETHE1):c.596-2A>G rs863223954
NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)

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