ClinVar Miner

List of variants reported as pathogenic for Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	rs375032130	0.00009
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)	rs746519257
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)

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